UCSC
UCSC

Taille (hg38) : 2,903,920 bases - Taille (hg19) : 3,270,696 bases


skin eye ear brain/cognition face skeleton skin skin musculature skin skin skin skin skin skin

CNV-Hub AChro-Puce
Pathogénique



Criètres AChro-Puce pris en compte 1

Class

2 Major

CNV hérité par des parents Asymptomatiques.

Class

4 Major

CNV De novo ou hérité par des parents Symptomatiques.

Class

4 Major

Au moins une occurrence pathogénique ou probablement pathogénique dans les bases de données patientes > 80 % de chevauchement

Class

4 Major

Gène haploinsuffisant

Class

4 Minor

CNV plus fréquent dans les cas patient que dans les cas contrôle de l'étude Coe & Al

Class

4 Minor

Au moins une occurrence pathogénique ou probablement pathogénique dans les bases de données patientes > 50 % de chevauchement

Class

4 Minor

Pas d'occurrence dans DGV / DGV-Gold > 50 % de chevauchement

Class

4 Minor

CNV de plus ou au moins 1 Mb.

Class

5 

Syndrôme de Deletion, Duplication, Microdeletion or Microduplication détecté : 22q11.2 deletion syndrome | Distal 22q11.2 microdeletion syndrome.


ISV 2

XCNV 3

ClassifyCNV ACMG 4

AnnotSV ACMG 5

ACMG critères

ClassifyCNV

2A
+ 1

Complete overlap of an established HI gene/genomic region.

2H
+ 0.15

Multiple HI predictors suggest that AT LEAST ONE gene in the interval is haploinsufficient (HI).

3C
+ 0.9

Number of protein-coding RefSeq genes wholly or partially included in the CNV region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

AnnotSV

2A
+ 1

Complete overlap of an established HI gene/genomic region.

3C
+ 0.9

Number of protein-coding RefSeq genes wholly or partially included in the CNV region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.


Maladies :

Gène Maladie Source Transmission héréditaire
HIRA 22q11.2 deletion syndrome Orphanet Autosomal dominant
UFD1 22q11.2 deletion syndrome Orphanet Autosomal dominant
TBX1 22q11.2 deletion syndrome Orphanet Autosomal dominant
ARVCF 22q11.2 deletion syndrome Orphanet Autosomal dominant
CRKL Distal 22q11.2 microdeletion syndrome Orphanet Autosomal dominant
LZTR1 Schwannomatosis Orphanet Autosomal dominant
MAPK1 Distal 22q11.2 microdeletion syndrome Orphanet Autosomal dominant
SLC25A1 Presynaptic congenital myasthenic syndromes Orphanet Autosomal dominant, Autosomal recessive
CDC45 Ear-patella-short stature syndrome Orphanet Autosomal dominant, Autosomal recessive
PRODH Hyperprolinemia type 1 Orphanet Autosomal recessive
CLTCL1 Congenital insensitivity to pain with severe intellectual disability Orphanet Autosomal recessive
TXNRD2 Familial glucocorticoid deficiency Orphanet Autosomal recessive
SCARF2 Van den Ende-Gupta syndrome Orphanet Autosomal recessive
SNAP29 CEDNIK syndrome Orphanet Autosomal recessive
GP1BB Fetal and neonatal alloimmune thrombocytopenia Orphanet Not applicable
UBE2L3 Systemic lupus erythematosus Orphanet Not applicable
CLDN5 cldn5-related neurodevelopmental disorder DDG2P
TANGO2 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Orphanet
PI4KA Bilateral perisylvian polymicrogyria Orphanet

ClinGen

0 bénin CNV
0 probablement bénin CNV
5 incertain CNV
0 probablement pathogénique CNV
73 pathogénique CNV

70% Chevauchement


Decipher

0 bénin CNV
118 inconnu CNV
11 incertain CNV
118 pathogénique CNV

70% Chevauchement

DGV-Gold

0

80% Chevauchement

0

50% Chevauchement


DGV

0

80% Chevauchement

0

50% Chevauchement


Étude de Coe & Al 6

10

Cas Patient
70% Chevauchement

1

Cas Contrôle
70% Chevauchement


Gènes avec pHaplo > 0.55 7

13

HIRA CLDN5 TBX1 DGCR8 RTN4R SCARF2 MED15 PI4KA SERPIND1 CRKL HIC2 UBE2L3 MAPK1

Gènes avec pTriplo > 0.68 7

15

HIRA TBX1 DGCR8 RANBP1 SCARF2 KLHL22 MED15 PI4KA CRKL THAP7 HIC2 UBE2L3 PPIL2 MAPK1

Gènes dans SFARI

5

PRODH CLTCL1 TBX1 GNB1L LZTR1

Gènes dans OMIM

52

Sources et références

1 : AChroPuce Consortium Recommandations pour l’interpretation Clinique des CNV (Copy Number Variations) Septembre 2022.

2 : Automated prediction of the clinical impact of structural copy number variations : M. Gažiová, T. Sládeček, O. Pös, M. Števko, W. Krampl, Z. Pös, R. Hekel, M. Hlavačka, M. Kucharík, J. Radvánszky, J. Budiš & T. Szemes View article

3 : Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, et al X CNV genome wide prediction of the pathogenicity of copy number variations Genome Med 2021 13 132.

4 : Gurbich, T.A., Ilinsky, V.V. ClassifyCNV: a tool for clinical annotation of copy-number variants. Sci Rep 10, 20375 (2020). View article

5 : Geoffroy V, Herenger Y, Kress A, et al. AnnotSV: an integrated tool for structural variations annotation. Bioinforma Oxf Engl. 2018;34(20):3572-3574. doi:10.1093/bioinformatics/bty304

6 : Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto van Silfhout AT, Bosco P, et al Refining analyses of copy number variation identifies specific genes associated with developmental delay Nat Genet 2014 46 1063 71

7 : Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, et al A cross disorder dosage sensitivity map of the human genome Cell 2022 185 3041 3055 e 25

Delete and Recompute CNV

52 Gènes OMIM chevauchés

Télécharger les gèenes en .csv

HPO Id HPO Term OMIM Disease

PI4KA NM_058004.4   Gène complet - Taille : 151,726 bases


pLI : 0 LOEUF : 0.46 sHet : 0.015 pHaplo : 0.69 pTriplo : 0.84
Localisation : 20,707,691 - 20,859,417

Maladie : Bilateral perisylvian polymicrogyria

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:600286 Orphanet:98889 HGNC:8983 PMID:25855803 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0011968 Feeding difficulties Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
HP:0012469 Infantile spasms Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
HP:0000268 Dolichocephaly An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
HP:0031993 Hoffmann sign A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.
HP:0001539 Omphalocele A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
HP:0000778 Hypoplasia of the thymus Underdevelopment of the thymus.
HP:0001371 Flexion contracture A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
HP:0007663 Reduced visual acuity
HP:0002960 Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0012017 EEG with parietal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.
HP:0002015 Dysphagia Difficulty in swallowing.
HP:0100889 Abnormal ductus choledochus morphology An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.
HP:0020045 Esodeviation A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.
HP:0002392 EEG with polyspike wave complexes The presence of complexes of repetitive spikes and waves in EEG.
HP:0007024 Pseudobulbar paralysis Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.
HP:0003621 Juvenile onset Onset of signs or symptoms of disease between the age of 5 and 15 years.
HP:0002495 Impaired vibratory sensation A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
HP:0008969 Leg muscle stiffness
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0007033 Cerebellar dysplasia Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.
HP:0002194 Delayed gross motor development A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
HP:0000012 Urinary urgency Urge incontinence is the strong, sudden need to urinate.
HP:0003487 Babinski sign Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
HP:0007301 Oromotor apraxia Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.
HP:0012650 Perisylvian polymicrogyria Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.
HP:0002835 Aspiration Inspiration of a foreign object into the airway.
HP:0012454 Unilateral wrist flexion contracture A chronic loss of wrist joint motion on one side only.
HP:0008070 Sparse hair Reduced density of hairs.
HP:0002269 Abnormality of neuronal migration An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
HP:0000453 Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0001260 Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
HP:0011755 Ectopic posterior pituitary An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.
HP:0100543 Cognitive impairment Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
HP:0012115 Hepatitis Inflammation of the liver.
HP:0010766 Ectopic calcification Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
HP:0004430 Severe combined immunodeficiency A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
HP:0001762 Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
HP:0001072 Thickened skin Laminar thickening of skin.
HP:0030051 Tip-toe gait An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
HP:0001511 Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0001257 Spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
HP:0011461 Fetal onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).
HP:0000648 Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0002080 Intention tremor A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
HP:0002415 Leukodystrophy Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
HP:0011463 Childhood onset Onset of disease at the age of between 1 and 5 years.
HP:0100651 Type I diabetes mellitus A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
HP:0010557 Overlapping fingers A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.
HP:0001320 Cerebellar vermis hypoplasia Underdevelopment of the vermis of cerebellum.
HP:0002385 Paraparesis Weakness or partial paralysis in the lower limbs.
HP:0006466 Ankle flexion contracture
HP:0020190 Perisylvian predominant thick cortex pachygyria Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.
HP:0002089 Pulmonary hypoplasia
HP:0001276 Hypertonia A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
HP:0002463 Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
HP:0002020 Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0002599 Head titubation A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
HP:0410011 Abnormality of masticatory muscle Any abnormality of the masticatory muscle.
HP:0012015 EEG with frontal focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0005684 Distal arthrogryposis An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.
HP:0003429 CNS hypomyelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
HP:0002061 Lower limb spasticity Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
HP:0010808 Protruding tongue Tongue extending beyond the alveolar ridges or teeth at rest.
HP:0001776 Bilateral talipes equinovarus Bilateral clubfoot deformity.
HP:0002119 Ventriculomegaly An increase in size of the ventricular system of the brain.
HP:0006380 Knee flexion contracture A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
HP:0010945 Fetal pyelectasis Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0010959 Congenital pulmonary airway malformation Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.
HP:0002804 Arthrogryposis multiplex congenita Multiple congenital contractures in different body areas.
HP:0000365 Hearing impairment A decreased magnitude of the sensory perception of sound.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0005229 Jejunoileal ulceration
HP:0011100 Intestinal atresia An abnormal closure, or atresia of the tubular structure of the intestine.
HP:0002808 Kyphosis Exaggerated anterior convexity of the thoracic vertebral column.
HP:0002721 Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0100280 Crohn's disease A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
HP:0001561 Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0008796 Femoral retroversion An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).
HP:0025085 Bloody diarrhea Passage of many stools containing blood.
HP:0030890 Hyperintensity of cerebral white matter on MRI A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
HP:0001251 Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0001321 Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
HP:0010946 Dilatation of the renal pelvis The presence of dilatation of the renal pelvis.
HP:0002307 Drooling Habitual flow of saliva out of the mouth.
HP:0000639 Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0002359 Frequent falls
HP:0001272 Cerebellar atrophy Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0012110 Hypoplasia of the pons Underdevelopment of the pons.
HP:0002510 Spastic tetraplegia Spastic paralysis affecting all four limbs.
HP:0002126 Polymicrogyria Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
HP:0030319 Weakness of facial musculature Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0002722 Recurrent abscess formation An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.
HP:0002509 Limb hypertonia
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0008947 Infantile muscular hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
HP:0003593 Infantile onset Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0002104 Apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
HP:0033725 Thin corpus callosum An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
HP:0007359 Focal-onset seizure A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
HP:0011157 Focal sensory seizure A focal sensory seizure is a type seizure beginning with a subjective sensation.
HP:0002566 Intestinal malrotation An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
HP:0007340 Lower limb muscle weakness Weakness of the muscles of the legs.
HP:0002223 Absent eyebrow Absence of the eyebrow.
HP:0001258 Spastic paraplegia Spasticity and weakness of the leg and hip muscles.
HP:0008404 Nail dystrophy Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
HP:0010292 Absent uvula Lack of the uvula.
HP:0000750 Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age.
HP:0002355 Difficulty walking Reduced ability to walk (ambulate).
HP:0030674 Antenatal onset Onset prior to birth.
HP:0032965 Interstitial emphysema Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts.
HP:0001761 Pes cavus An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
HP:0002037 Inflammation of the large intestine Inflammation, or an inflammatory state in the large intestine.
HP:0100702 Arachnoid cyst An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0003273 Hip contracture Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
HP:0002110 Bronchiectasis Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
HP:0001890 Autoimmune hemolytic anemia An autoimmune form of hemolytic anemia.
HP:0000872 Hashimoto thyroiditis A chronic, autoimmune type of thyroiditis associated with hypothyroidism.
HP:0012014 EEG with central focal spikes EEG with focal sharp transient waves of a duration less than 80 msec in the central region.
HP:0002589 Gastrointestinal atresia
HP:0003765 Psoriasiform dermatitis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
HP:0001349 Facial diplegia Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
HP:0002293 Alopecia of scalp
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0005224 Rectal abscess A collection of pus in the area of the rectum.
HP:0001888 Lymphopenia A reduced number of lymphocytes in the blood.
HP:0000143 Rectovaginal fistula The presence of a fistula between the vagina and the rectum.
HP:0010873 Cervical spinal cord atrophy Atrophy of the cervical segment of the spinal cord.
HP:0011448 Ankle clonus Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
HP:0001332 Dystonia An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
HP:0032407 Bilateral perisylvian polymicrogyria A type of perisylvian polymicrogyria that affects both sides of the brain.
HP:0001310 Dysmetria A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
HP:0003270 Abdominal distention Distention of the abdomen.
HP:0100592 Peritoneal abscess The presence of an abscess of the peritoneum.
HP:0010862 Delayed fine motor development A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.
HP:0000767 Pectus excavatum A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
HP:0001347 Hyperreflexia Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

HIRA NM_003325.4   Gène complet - Taille : 116,752 bases

brain/cognition

pLI : 1 LOEUF : 0.14 sHet : 0.38 pHaplo : 0.92 pTriplo : 0.99
Localisation : 19,330,698 - 19,447,450

Maladie : 22q11.2 deletion syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:600237 Orphanet:567 HGNC:4916 PMID:15177686 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0011324 Multiple suture craniosynostosis Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.
HP:0000717 Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
HP:0000276 Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0000778 Hypoplasia of the thymus Underdevelopment of the thymus.
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0002960 Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000739 Anxiety Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0001646 Abnormal aortic valve morphology Any abnormality of the aortic valve.
HP:0001161 Hand polydactyly A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
HP:0011662 Tricuspid atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.
HP:0000089 Renal hypoplasia Hypoplasia of the kidney.
HP:0001829 Foot polydactyly A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
HP:0000130 Abnormality of the uterus An abnormality of the uterus.
HP:0000076 Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
HP:0000508 Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0001508 Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0000286 Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0000164 Abnormality of the dentition Any abnormality of the teeth.
HP:0001281 Tetany A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
HP:0000600 Abnormality of the pharynx An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
HP:0002251 Aganglionic megacolon An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
HP:0000494 Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0002101 Abnormal lung lobation A developmental defect in the formation of pulmonary lobes.
HP:0000627 Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0002381 Aphasia An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
HP:0001744 Splenomegaly Abnormal increased size of the spleen.
HP:0100750 Atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part.
HP:0001051 Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
HP:0002239 Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
HP:0001537 Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0001053 Hypopigmented skin patches
HP:0000492 Abnormal eyelid morphology An abnormality of the eyelids.
HP:0000829 Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0002435 Meningocele Protrusion of the meninges through a defect of the skull or vertebral column.
HP:0000369 Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0000453 Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0001872 Abnormality of thrombocytes An abnormality of platelets.
HP:0000682 Abnormal dental enamel morphology An abnormality of the dental enamel.
HP:0001136 Retinal arteriolar tortuosity The presence of an increased number of twists and turns of the retinal arterioles.
HP:0001631 Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0001762 Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
HP:0001601 Laryngomalacia Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
HP:0000160 Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0001511 Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0002999 Patellar dislocation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
HP:0000648 Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0002139 Arrhinencephaly A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.
HP:0007018 Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0005692 Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0001999 Abnormal facial shape An abnormal morphology (form) of the face or its components.
HP:0006510 Chronic pulmonary obstruction An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.
HP:0000582 Upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
HP:0005562 Multiple renal cysts The presence of many cysts in the kidney.
HP:0001369 Arthritis Inflammation of a joint.
HP:0000765 Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
HP:0007271 Occipital myelomeningocele
HP:0000979 Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
HP:0000396 Overfolded helix A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
HP:0001061 Acne A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
HP:0002019 Constipation Infrequent or difficult evacuation of feces.
HP:0002099 Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
HP:0002619 Varicose veins Enlarged and tortuous veins.
HP:0000385 Small earlobe Reduced volume of the earlobe.
HP:0002020 Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0000501 Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
HP:0000929 Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.
HP:0100753 Schizophrenia A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0002023 Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0012732 Anorectal anomaly An abnormality of the anus or rectum.
HP:0000262 Turricephaly Tall head relative to width and length.
HP:0000708 Atypical behavior Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0002691 Platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
HP:0000365 Hearing impairment A decreased magnitude of the sensory perception of sound.
HP:0001643 Patent ductus arteriosus In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
HP:0002721 Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0100735 Hypertensive crisis
HP:0001561 Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0000670 Carious teeth Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
HP:0000322 Short philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
HP:0001660 Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
HP:0000518 Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0002650 Scoliosis The presence of an abnormal lateral curvature of the spine.
HP:0000414 Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000405 Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
HP:0000238 Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
HP:0005435 Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0001513 Obesity Accumulation of substantial excess body fat.
HP:0002901 Hypocalcemia An abnormally decreased calcium concentration in the blood.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0000389 Chronic otitis media Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
HP:0000836 Hyperthyroidism An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
HP:0002607 Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
HP:0011496 Corneal neovascularization Ingrowth of new blood vessels into the cornea.
HP:0007302 Bipolar affective disorder Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.
HP:0002566 Intestinal malrotation An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
HP:0001166 Arachnodactyly Abnormally long and slender fingers ("spider fingers").
HP:0008872 Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0001641 Abnormal pulmonary valve morphology Any structural abnormality of the pulmonary valve.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0001873 Thrombocytopenia A reduction in the number of circulating thrombocytes.
HP:0000426 Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000431 Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0012303 Abnormal aortic arch morphology An anomaly of the arch of aorta.
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0000470 Short neck Diminished length of the neck.
HP:0000047 Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
HP:0000113 Polycystic kidney dysplasia The presence of multiple cysts in both kidneys.
HP:0000716 Depression Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0000506 Telecanthus Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
HP:0002414 Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
HP:0000316 Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0000821 Hypothyroidism Deficiency of thyroid hormone.
HP:0003326 Myalgia Pain in muscle.
HP:0000486 Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0001636 Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart and great vessels.
HP:0000568 Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes.
HP:0000343 Long philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
HP:0100765 Abnormality of the tonsils An abnormality of the tonsils.
HP:0001081 Cholelithiasis Hard, pebble-like deposits that form within the gallbladder.
HP:0001256 Intellectual disability, mild Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
HP:0000272 Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

CLTCL1 NM_007098.4   Gène complet - Taille : 112,246 bases


pLI : 0 LOEUF : 0.99 sHet : 0.007 pHaplo : 0.11 pTriplo : 0.35
Localisation : 19,179,473 - 19,291,719

Maladie : Congenital insensitivity to pain with severe intellectual disability

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:601273 Orphanet:453510 HGNC:2093 PMID:26068709 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0008947 Infantile muscular hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
HP:0001772 Talipes equinovalgus A deformity of foot and ankle in which the foot is bent down and outwards.
HP:0002757 Recurrent fractures The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
HP:0010830 Impaired tactile sensation A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.
HP:0001562 Oligohydramnios Diminished amniotic fluid volume in pregnancy.
HP:0000324 Facial asymmetry An abnormal difference between the left and right sides of the face.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0011344 Severe global developmental delay A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
HP:0009826 Limb undergrowth Limb shortening because of underdevelopment of one or more bones of the extremities.
HP:0000742 Self-mutilation Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.
HP:0010841 Multifocal epileptiform discharges An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).
HP:0012044 Seesaw nystagmus Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.
HP:0000491 Keratitis Inflammation of the cornea.
HP:0001518 Small for gestational age Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
HP:0008780 Congenital bilateral hip dislocation
HP:0002982 Tibial bowing A bending or abnormal curvature of the tibia.
HP:0001999 Abnormal facial shape An abnormal morphology (form) of the face or its components.
HP:0002069 Bilateral tonic-clonic seizure A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
HP:0011470 Nasogastric tube feeding in infancy Feeding problem necessitating nasogastric tube feeding.
HP:0000486 Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0002188 Delayed CNS myelination Delayed myelination in the central nervous system.
HP:0007021 Pain insensitivity Inability to perceive painful stimuli.
HP:0200020 Corneal erosion An erosion or abrasion of the cornea's outermost layer of epithelial cells.
HP:0008000 Decreased corneal reflex An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
HP:0000448 Prominent nose Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
HP:0012745 Short palpebral fissure Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0002754 Osteomyelitis Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
HP:0001838 Rocker bottom foot The presence of both a prominent heel and a convex contour of the sole.


SFARI (Base de donnée sur l'autisme) :

Score du gène : 2
N'est pas syndromique
Pas de score EAGLE
Rapports : 6

MAPK1 NM_002745.5   Exons 5->9 / 9 - Taille : 108,023 bases

brain/cognition

pLI : 1 LOEUF : 0.17 sHet : 0.171 pHaplo : 0.77 pTriplo : 1
Localisation : 21,759,657 - 21,867,680

Maladie : Distal 22q11.2 microdeletion syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:176948 Orphanet:261330 HGNC:6871 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0012469 Infantile spasms Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
HP:0000276 Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0002205 Recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
HP:0005487 Prominent metopic ridge Vertical bony ridge positioned in the midline of the forehead.
HP:0000465 Webbed neck Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000739 Anxiety Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0000657 Oculomotor apraxia Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
HP:0000324 Facial asymmetry An abnormal difference between the left and right sides of the face.
HP:0010806 U-Shaped upper lip vermilion Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.
HP:0000508 Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0001634 Mitral valve prolapse One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
HP:0000286 Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0001763 Pes planus A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
HP:0012168 Head-banging Habitual striking of one's own head against a surface such as a mattress or wall of a crib.
HP:0000494 Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0002967 Cubitus valgus Abnormal positioning in which the elbows are turned out.
HP:0002553 Highly arched eyebrow Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0000307 Pointed chin A marked tapering of the lower face to the chin.
HP:0000218 High palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0000978 Bruising susceptibility An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
HP:0001770 Toe syndactyly Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
HP:0100033 Tics Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.
HP:0000407 Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
HP:0001845 Overlapping toe Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.
HP:0002673 Coxa valga Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
HP:0002197 Generalized-onset seizure A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.
HP:0000718 Aggressive behavior Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0000369 Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0000453 Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0004209 Clinodactyly of the 5th finger Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
HP:0002705 High, narrow palate The presence of a high and narrow palate.
HP:0004942 Aortic aneurysm Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
HP:0030084 Clinodactyly An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
HP:0002664 Neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
HP:0001631 Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0001653 Mitral regurgitation An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
HP:0000160 Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0001511 Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0100625 Enlarged thorax
HP:0000490 Deeply set eye An eye that is more deeply recessed into the plane of the face than is typical.
HP:0001802 Absent toenail Congenital absence of the toenail.
HP:0100559 Lower limb asymmetry A difference in length or diameter between the left and right leg.
HP:0000687 Widely spaced teeth Increased spaces (diastemata) between most of the teeth in the same dental arch.
HP:0000319 Smooth philtrum Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
HP:0007018 Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0005692 Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0003307 Hyperlordosis Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
HP:0010296 Ankyloglossia Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.
HP:0002230 Generalized hirsutism Abnormally increased hair growth over much of the entire body.
HP:0009882 Short distal phalanx of finger Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
HP:0001003 Multiple lentigines Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.
HP:0002463 Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
HP:0002020 Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0001622 Premature birth The birth of a baby of less than 37 weeks of gestational age.
HP:0100490 Camptodactyly of finger The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
HP:0000722 Compulsive behaviors Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.
HP:0000081 Duplicated collecting system A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.
HP:0001776 Bilateral talipes equinovarus Bilateral clubfoot deformity.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0000341 Narrow forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
HP:0001840 Metatarsus adductus The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
HP:0000581 Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0000430 Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi.
HP:0000348 High forehead An abnormally increased height of the forehead.
HP:0002721 Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0001357 Plagiocephaly Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
HP:0000010 Recurrent urinary tract infections Repeated infections of the urinary tract.
HP:0004279 Short palm Short palm.
HP:0009465 Ulnar deviation of finger Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
HP:0000154 Wide mouth Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0025352 Typically de novo Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals.
HP:0011229 Broad eyebrow Regional increase in the width (height) of the eyebrow.
HP:0000463 Anteverted nares Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
HP:0001660 Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
HP:0001377 Limited elbow extension Limited ability to straighten the arm at the elbow joint.
HP:0001659 Aortic regurgitation An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
HP:0002650 Scoliosis The presence of an abnormal lateral curvature of the spine.
HP:0000998 Hypertrichosis Hypertrichosis is increased hair growth that is abnormal in quantity or location.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0001182 Tapered finger The gradual reduction in girth of the finger from proximal to distal.
HP:0000363 Abnormal earlobe morphology An abnormality of the lobule of pinna.
HP:0000958 Dry skin Skin characterized by the lack of natural or normal moisture.
HP:0000219 Thin upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
HP:0002607 Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
HP:0001852 Sandal gap A widely spaced gap between the first toe (the great toe) and the second toe.
HP:0001290 Generalized hypotonia Generalized muscular hypotonia (abnormally low muscle tone).
HP:0001817 Absent fingernail Absence of a fingernail.
HP:0002389 Cavum septum pellucidum If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.
HP:0001166 Arachnodactyly Abnormally long and slender fingers ("spider fingers").
HP:0002162 Low posterior hairline Hair on the neck extends more inferiorly than usual.
HP:0000403 Recurrent otitis media Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
HP:0002021 Pyloric stenosis Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.
HP:0007874 Almond-shaped palpebral fissure A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.
HP:0000358 Posteriorly rotated ears A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
HP:0000691 Microdontia Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
HP:0000750 Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age.
HP:0001609 Hoarse voice Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
HP:0001004 Lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000426 Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000431 Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0001510 Growth delay A deficiency or slowing down of growth pre- and postnatally.
HP:0000280 Coarse facial features Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0000470 Short neck Diminished length of the neck.
HP:0006487 Bowing of the long bones A bending or abnormal curvature of a long bone.
HP:0000716 Depression Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0001388 Joint laxity Lack of stability of a joint.
HP:0000316 Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0009795 Branchial fistula A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.
HP:0000957 Cafe-au-lait spot Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
HP:0000343 Long philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
HP:0000635 Blue irides A markedly blue coloration of the iris.
HP:0000272 Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

MED15 NM_001003891.3   Gène complet - Taille : 91,719 bases


pLI : 1 LOEUF : 0.24 sHet : 0.101 pHaplo : 0.81 pTriplo : 0.97
Localisation : 20,495,913 - 20,587,632

Base de donnée :

DecipherGenomics OMIM:607372 GTEx Portal Human Protein Atlas Ensembl

DGCR2 NM_005137.3   Gène complet - Taille : 86,172 bases


pLI : 0 LOEUF : 0.88 sHet : 0.017 pHaplo : 0.13 pTriplo : 0.58
Localisation : 19,036,282 - 19,122,454

Base de donnée :

DecipherGenomics OMIM:600594 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0000829 Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0011999 Paranoia An inappropriate feeling of being persecuted or being the subject of hostility from others.
HP:0045025 Narrow palpebral fissure Reduction in the vertical distance between the upper and lower eyelids.
HP:0000278 Retrognathia An abnormality in which the mandible is mislocalised posteriorly.
HP:0000718 Aggressive behavior Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0000194 Open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000712 Emotional lability Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
HP:0012841 Retinal vascular tortuosity The presence of an increased number of twists and turns of the retinal blood vessels.
HP:0001155 Abnormality of the hand An abnormality affecting one or both hands.
HP:0000176 Submucous cleft hard palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0011590 Double aortic arch A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).
HP:0000581 Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0002627 Right aortic arch with mirror image branching The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.
HP:0000598 Abnormality of the ear An abnormality of the ear.
HP:0000430 Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi.
HP:0001883 Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0006549 Unilateral primary pulmonary dysgenesis
HP:0000627 Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0000201 Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0000414 Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0001636 Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0004935 Pulmonary artery atresia A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
HP:0000220 Velopharyngeal insufficiency Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
HP:0005435 Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002719 Recurrent infections Increased susceptibility to infections.
HP:0001537 Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0002901 Hypocalcemia An abnormally decreased calcium concentration in the blood.
HP:0011611 Interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.

UBE2L3 NM_003347.4   Gène complet - Taille : 74,587 bases


pLI : 0.87 LOEUF : 0.45 sHet : 0.145 pHaplo : 0.7 pTriplo : 1
Localisation : 21,549,447 - 21,624,034

Maladie : Systemic lupus erythematosus

Source : Orphanet

Base de donnée :

DecipherGenomics OMIM:603721 Orphanet:536 HGNC:12488 PMID:23917156 PMID:22045845 PMID:22476155 PMID:24091983 PMID:23943494 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0032235 Anti-La/SS-B antibody positivity The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.
HP:0012085 Pyuria The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.
HP:0003493 Antinuclear antibody positivity The presence of autoantibodies in the serum that react against nuclei or nuclear components.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0025300 Malar rash An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.
HP:0003453 Antineutrophil antibody positivity The presence of autoantibodies in the serum that react against neutrophils.
HP:0033028 Anti-U1 ribonucleoprotein antibody positivity The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.
HP:0100669 Abnormal pigmentation of the oral mucosa An abnormality of the pigmentation of the mucosa of the mouth.
HP:0002072 Chorea Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
HP:0001878 Hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis).
HP:0000155 Oral ulcer Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
HP:0001873 Thrombocytopenia A reduction in the number of circulating thrombocytes.
HP:0030880 Raynaud phenomenon
HP:0045073 Serositis Inflammation in any serous cavity.
HP:0000790 Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
HP:0100755 Abnormality of salivation
HP:0000093 Proteinuria Increased levels of protein in the urine.
HP:0033726 Lupus nephritis Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.
HP:0001596 Alopecia A noncongenital process of hair loss, which may progress to partial or complete baldness.
HP:0005421 Decreased circulating complement C3 concentration Concentration of the complement component C3 in the blood circulation below the lower limit of normal.
HP:0007417 Discoid lupus rash Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
HP:0000716 Depression Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0100825 Cheilitis Inflammation of the lip.
HP:0000488 Retinopathy Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
HP:0001369 Arthritis Inflammation of a joint.
HP:0001882 Leukopenia An abnormal decreased number of leukocytes in the blood.
HP:0000992 Cutaneous photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
HP:0002716 Lymphadenopathy Enlargment (swelling) of a lymph node.
HP:0000822 Hypertension The presence of chronic increased pressure in the systemic arterial system.
HP:0045042 Decreased circulating complement C4 concentration Concentration of the complement component C4 in the blood circulation below the lower limit of normal.

GNB1L NM_053004.3   Gène complet - Taille : 71,716 bases


pLI : 0 LOEUF : 1.05 sHet : 0.005 pHaplo : 0.04 pTriplo : 0.25
Localisation : 19,783,223 - 19,854,939

Base de donnée :

DecipherGenomics PanelApp OMIM:610778 GTEx Portal Human Protein Atlas Ensembl


SFARI (Base de donnée sur l'autisme) :

Score du gène : 2
N'est pas syndromique
Pas de score EAGLE
Rapports : 2

TXNRD2 NM_006440.5   Gène complet - Taille : 66,303 bases


pLI : 0 LOEUF : 0.99 sHet : 0.004 pHaplo : 0.07 pTriplo : 0.43
Localisation : 19,875,517 - 19,941,820

Maladie : Familial glucocorticoid deficiency

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:606448 Orphanet:361 HGNC:18155 PMID:24601690 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0001874 Abnormality of neutrophils A neutrophil abnormality.
HP:0025451 Testicular adrenal rest tumor Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.
HP:0007440 Generalized hyperpigmentation
HP:0002173 Hypoglycemic seizures
HP:0002013 Vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
HP:0002574 Episodic abdominal pain An intermittent form of abdominal pain.
HP:0100578 Lipoatrophy Localized loss of fat tissue.
HP:0002014 Diarrhea Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
HP:0012432 Chronic fatigue Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.
HP:0002960 Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0031074 Abnormal response to ACTH stimulation test An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0001644 Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
HP:0004319 Decreased circulating aldosterone level Abnormally reduced levels of aldosterone.
HP:0003457 EMG abnormality Abnormal results of investigations using electromyography (EMG).
HP:0003198 Myopathy A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
HP:0000846 Adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
HP:0001325 Hypoglycemic coma Coma induced by low blood sugar.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0001824 Weight loss Reduction of total body weight.
HP:0001508 Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0002039 Anorexia Anorexia, or the loss of appetite for food, is a medical condition.
HP:0002902 Hyponatremia An abnormally decreased sodium concentration in the blood.
HP:0008163 Decreased circulating cortisol level Abnormally reduced concentration of cortisol in the blood.
HP:0002445 Tetraplegia Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.
HP:0000953 Hyperpigmentation of the skin A darkening of the skin related to an increase in melanin production and deposition.
HP:0000010 Recurrent urinary tract infections Repeated infections of the urinary tract.
HP:0003236 Elevated circulating creatine kinase concentration An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
HP:0011043 Abnormal circulating adrenocorticotropin concentration An abnormal concentration of corticotropin in the blood.
HP:0000982 Palmoplantar keratoderma Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
HP:0000826 Precocious puberty The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
HP:0100618 Leydig cell neoplasia The presence of a neoplasm of the testis with origin in a Leydig cell.
HP:0000098 Tall stature A height above that which is expected according to age and gender norms.
HP:0000127 Renal salt wasting A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0031214 Decreased circulating dehydroepiandrosterone concentration
HP:0000851 Congenital hypothyroidism A type of hypothyroidism with congenital onset.
HP:0000027 Azoospermia Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
HP:0012605 Hypernatriuria An increased concentration of sodium(1+) in the urine.
HP:0002153 Hyperkalemia An abnormally increased potassium concentration in the blood.
HP:0012734 Ketotic hypoglycemia Low blood glucose is accompanied by elevated levels of ketone bodies in the body.
HP:0002719 Recurrent infections Increased susceptibility to infections.
HP:0031076 Impaired cortisol response to insulin stimulation test Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).
HP:0002615 Hypotension Low Blood Pressure, vascular hypotension.
HP:0002019 Constipation Infrequent or difficult evacuation of feces.
HP:0001639 Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
HP:0000407 Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

DGCR5 -   Pas de exons chevauchés / 0 - Taille : 60,803 bases



Localisation : 18,970,439 - 19,031,242

Base de donnée :

DecipherGenomics OMIM:618040 GTEx Portal Human Protein Atlas Ensembl

KLHL22 NM_032775.4   Gène complet - Taille : 54,325 bases


pLI : 0.42 LOEUF : 0.44 sHet : 0.026 pHaplo : 0.48 pTriplo : 0.79
Localisation : 20,441,519 - 20,495,844

Base de donnée :

DecipherGenomics OMIM:618020 GTEx Portal Human Protein Atlas Ensembl

TANGO2 NM_152906.7   Gène complet - Taille : 50,150 bases

brain/cognition musculature

pLI : 0 LOEUF : 0.89 sHet : 0.007 pHaplo : 0.04 pTriplo : 0.44
Localisation : 20,017,014 - 20,067,164

Maladie : Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:616830 Orphanet:480864 HGNC:25439 PMID:26805782 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0003201 Rhabdomyolysis Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
HP:0001943 Hypoglycemia A decreased concentration of glucose in the blood.
HP:0012469 Infantile spasms Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
HP:0001663 Ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
HP:0001664 Torsade de pointes A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
HP:0002173 Hypoglycemic seizures
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0002169 Clonus A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
HP:0031936 Delayed ability to walk A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
HP:0002919 Ketonuria High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
HP:0045045 Elevated circulating acylcarnitine concentration Concentration of acylcarnitine in the blood circulation above the upper limit of normal.
HP:0004305 Involuntary movements Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
HP:0002910 Elevated hepatic transaminase Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
HP:0003115 Abnormal EKG Abnormal rhythm of the heart.
HP:0002015 Dysphagia Difficulty in swallowing.
HP:0001288 Gait disturbance The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
HP:0002283 Global brain atrophy Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
HP:0002066 Gait ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0002370 Poor coordination
HP:0008223 Compensated hypothyroidism Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0200136 Oral-pharyngeal dysphagia
HP:0002913 Myoglobinuria Presence of myoglobin in the urine.
HP:0003487 Babinski sign Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
HP:0002059 Cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
HP:0000646 Amblyopia Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
HP:0001942 Metabolic acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
HP:0003236 Elevated circulating creatine kinase concentration An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
HP:0002151 Increased serum lactate Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
HP:0001251 Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0002307 Drooling Habitual flow of saliva out of the mouth.
HP:0000639 Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0003128 Lactic acidosis An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
HP:0002510 Spastic tetraplegia Spastic paralysis affecting all four limbs.
HP:0008942 Acute rhabdomyolysis An acute form of rhabdomyolysis.
HP:0002180 Neurodegeneration Progressive loss of neural cells and tissue.
HP:0001264 Spastic diplegia Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
HP:0002071 Abnormality of extrapyramidal motor function A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
HP:0001639 Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
HP:0000407 Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
HP:0001695 Cardiac arrest An abrupt loss of heart function.
HP:0001290 Generalized hypotonia Generalized muscular hypotonia (abnormally low muscle tone).
HP:0001260 Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
HP:0008872 Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0006801 Hyperactive deep tendon reflexes
HP:0012411 Premature pubarche The onset of growth of pubic hair at an earlier age than normal.
HP:0001987 Hyperammonemia An increased concentration of ammonia in the blood.
HP:0011343 Moderate global developmental delay A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.
HP:0004756 Ventricular tachycardia A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
HP:0005184 Prolonged QTc interval A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
HP:0003458 EMG: myopathic abnormalities The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
HP:0011675 Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
HP:0011344 Severe global developmental delay A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
HP:0000750 Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age.
HP:0100704 Cerebral visual impairment A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
HP:0002384 Focal impaired awareness seizure Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0010818 Generalized tonic seizure A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.
HP:0031165 Multifocal seizures Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).
HP:0001297 Stroke Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
HP:0000648 Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0011342 Mild global developmental delay A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
HP:0001324 Muscle weakness Reduced strength of muscles.
HP:0002123 Generalized myoclonic seizure A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
HP:0010314 Premature thelarche Premature development of the breasts.
HP:0002069 Bilateral tonic-clonic seizure A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
HP:0000821 Hypothyroidism Deficiency of thyroid hormone.
HP:0002376 Developmental regression Loss of developmental skills, as manifested by loss of developmental milestones.
HP:0001332 Dystonia An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
HP:0002579 Gastrointestinal dysmotility Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
HP:0001344 Absent speech Complete lack of development of speech and language abilities.
HP:0001276 Hypertonia A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
HP:0000605 Supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
HP:0001657 Prolonged QT interval Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
HP:0002058 Myopathic facies A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
HP:0001347 Hyperreflexia Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
HP:0002311 Incoordination

ARVCF NM_001670.3   Gène complet - Taille : 46,927 bases


pLI : 0 LOEUF : 0.82 sHet : 0.005 pHaplo : 0.17 pTriplo : 0.39
Localisation : 19,969,896 - 20,016,823

Maladie : 22q11.2 deletion syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:602269 Orphanet:567 HGNC:728 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0011324 Multiple suture craniosynostosis Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.
HP:0000717 Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
HP:0000276 Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0000778 Hypoplasia of the thymus Underdevelopment of the thymus.
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0002960 Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000739 Anxiety Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0001646 Abnormal aortic valve morphology Any abnormality of the aortic valve.
HP:0001161 Hand polydactyly A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
HP:0011662 Tricuspid atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.
HP:0000089 Renal hypoplasia Hypoplasia of the kidney.
HP:0001829 Foot polydactyly A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
HP:0000130 Abnormality of the uterus An abnormality of the uterus.
HP:0000076 Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
HP:0000508 Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0001508 Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0000286 Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0000164 Abnormality of the dentition Any abnormality of the teeth.
HP:0001281 Tetany A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
HP:0000600 Abnormality of the pharynx An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
HP:0002251 Aganglionic megacolon An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
HP:0000494 Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0002101 Abnormal lung lobation A developmental defect in the formation of pulmonary lobes.
HP:0000627 Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0002381 Aphasia An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
HP:0001744 Splenomegaly Abnormal increased size of the spleen.
HP:0100750 Atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part.
HP:0001051 Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
HP:0002239 Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
HP:0001537 Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0001053 Hypopigmented skin patches
HP:0000492 Abnormal eyelid morphology An abnormality of the eyelids.
HP:0000829 Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0002435 Meningocele Protrusion of the meninges through a defect of the skull or vertebral column.
HP:0000369 Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0000453 Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0001872 Abnormality of thrombocytes An abnormality of platelets.
HP:0000682 Abnormal dental enamel morphology An abnormality of the dental enamel.
HP:0001136 Retinal arteriolar tortuosity The presence of an increased number of twists and turns of the retinal arterioles.
HP:0001631 Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0001762 Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
HP:0001601 Laryngomalacia Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
HP:0000160 Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0001511 Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0002999 Patellar dislocation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
HP:0000648 Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0002139 Arrhinencephaly A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.
HP:0007018 Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0005692 Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0001999 Abnormal facial shape An abnormal morphology (form) of the face or its components.
HP:0006510 Chronic pulmonary obstruction An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.
HP:0000582 Upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
HP:0005562 Multiple renal cysts The presence of many cysts in the kidney.
HP:0001369 Arthritis Inflammation of a joint.
HP:0000765 Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
HP:0007271 Occipital myelomeningocele
HP:0000979 Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
HP:0000396 Overfolded helix A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
HP:0001061 Acne A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
HP:0002019 Constipation Infrequent or difficult evacuation of feces.
HP:0002099 Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
HP:0002619 Varicose veins Enlarged and tortuous veins.
HP:0000385 Small earlobe Reduced volume of the earlobe.
HP:0002020 Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0000501 Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
HP:0000929 Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.
HP:0100753 Schizophrenia A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0002023 Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0012732 Anorectal anomaly An abnormality of the anus or rectum.
HP:0000262 Turricephaly Tall head relative to width and length.
HP:0000708 Atypical behavior Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0002691 Platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
HP:0000365 Hearing impairment A decreased magnitude of the sensory perception of sound.
HP:0001643 Patent ductus arteriosus In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
HP:0002721 Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0100735 Hypertensive crisis
HP:0001561 Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0000670 Carious teeth Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
HP:0000322 Short philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
HP:0001660 Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
HP:0000518 Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0002650 Scoliosis The presence of an abnormal lateral curvature of the spine.
HP:0000414 Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000405 Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
HP:0000238 Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
HP:0005435 Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0001513 Obesity Accumulation of substantial excess body fat.
HP:0002901 Hypocalcemia An abnormally decreased calcium concentration in the blood.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0000389 Chronic otitis media Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
HP:0000836 Hyperthyroidism An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
HP:0002607 Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
HP:0011496 Corneal neovascularization Ingrowth of new blood vessels into the cornea.
HP:0007302 Bipolar affective disorder Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.
HP:0002566 Intestinal malrotation An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
HP:0001166 Arachnodactyly Abnormally long and slender fingers ("spider fingers").
HP:0008872 Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0001641 Abnormal pulmonary valve morphology Any structural abnormality of the pulmonary valve.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0001873 Thrombocytopenia A reduction in the number of circulating thrombocytes.
HP:0000426 Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000431 Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0012303 Abnormal aortic arch morphology An anomaly of the arch of aorta.
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0000470 Short neck Diminished length of the neck.
HP:0000047 Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
HP:0000113 Polycystic kidney dysplasia The presence of multiple cysts in both kidneys.
HP:0000716 Depression Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0000506 Telecanthus Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
HP:0002414 Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
HP:0000316 Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0000821 Hypothyroidism Deficiency of thyroid hormone.
HP:0003326 Myalgia Pain in muscle.
HP:0000486 Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0001636 Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart and great vessels.
HP:0000568 Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes.
HP:0000343 Long philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
HP:0100765 Abnormality of the tonsils An abnormality of the tonsils.
HP:0001081 Cholelithiasis Hard, pebble-like deposits that form within the gallbladder.
HP:0001256 Intellectual disability, mild Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
HP:0000272 Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

RTN4R NM_023004.6   Gène complet - Taille : 41,831 bases


pLI : 0.96 LOEUF : 0.3 pHaplo : 0.63 pTriplo : 0.59
Localisation : 20,241,415 - 20,283,246

Base de donnée :

DecipherGenomics OMIM:605566 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0000738 Hallucinations Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.
HP:0100753 Schizophrenia A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.
HP:0002353 EEG abnormality Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0007086 Social and occupational deterioration
HP:0410291 Negativism Opposing or not responding to instructions or external stimuli.

CDC45 NM_003504.5   Gène complet - Taille : 41,155 bases

ear brain/cognition skeleton

pLI : 0 LOEUF : 0.58 sHet : 0.018 pHaplo : 0.17 pTriplo : 0.25
Localisation : 19,479,457 - 19,520,612

Maladie : Ear-patella-short stature syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:603465 Orphanet:2554 HGNC:1739 PMID:27374770 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0011968 Feeding difficulties Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
HP:0100867 Duodenal stenosis The narrowing or partial blockage of a portion of the duodenum.
HP:0012227 Urethral stricture Narrowing of the urethra associated with inflammation or scar tissue.
HP:0003083 Dislocated radial head A dislocation of the head of the radius from its socket in the elbow joint.
HP:0000064 Hypoplastic labia minora
HP:0002023 Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0100490 Camptodactyly of finger The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000413 Atresia of the external auditory canal Absence or failure to form of the external auditory canal.
HP:0003100 Slender long bone Reduced diameter of a long bone.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0000076 Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
HP:0002094 Dyspnea Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
HP:0002025 Anal stenosis Abnormal narrowing of the anal opening.
HP:0003577 Congenital onset A phenotypic abnormality that is present at birth.
HP:0000365 Hearing impairment A decreased magnitude of the sensory perception of sound.
HP:0000176 Submucous cleft hard palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0005930 Abnormal epiphysis morphology An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
HP:0001508 Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0008551 Microtia Underdevelopment of the external ear.
HP:0002878 Respiratory failure A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
HP:0045074 Thin eyebrow Decreased diameter of eyebrow hairs.
HP:0003510 Severe short stature A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
HP:0001217 Clubbing Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0006498 Aplasia/Hypoplasia of the patella Absence or underdevelopment of the patella.
HP:0000260 Wide anterior fontanel Enlargement of the anterior fontanelle with respect to age-dependent norms.
HP:0000054 Micropenis Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
HP:0011267 Microtia, third degree Presence of some auricular structures, but none of these structures conform to recognized ear components.
HP:0011706 Second degree atrioventricular block An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.
HP:0002650 Scoliosis The presence of an abnormal lateral curvature of the spine.
HP:0000253 Progressive microcephaly Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
HP:0000327 Hypoplasia of the maxilla Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000218 High palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0008665 Clitoral hypertrophy Hypertrophy of the clitoris.
HP:0012471 Thick vermilion border Increased width of the skin of vermilion border region of upper lip.
HP:0000545 Myopia An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
HP:0008736 Hypoplasia of penis
HP:0009892 Anotia Complete absence of any auricular structures.
HP:0003042 Elbow dislocation Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
HP:0000193 Bifid uvula Uvula separated into two parts most easily seen at the tip.
HP:0007099 Chiari type I malformation Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0000407 Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
HP:0000772 Abnormal rib morphology An anomaly of the rib.
HP:0001674 Complete atrioventricular canal defect A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
HP:0000278 Retrognathia An abnormality in which the mandible is mislocalised posteriorly.
HP:0012722 Heart block Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
HP:0000369 Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0000059 Hypoplastic labia majora Undergrowth of the outer labia.
HP:0003422 Vertebral segmentation defect An abnormality related to a defect of vertebral separation during development.
HP:0000453 Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0004209 Clinodactyly of the 5th finger Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
HP:0034271 Copper beaten skull Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper.
HP:0002750 Delayed skeletal maturation A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
HP:0002705 High, narrow palate The presence of a high and narrow palate.
HP:0000358 Posteriorly rotated ears A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
HP:0001631 Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0000039 Epispadias Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000160 Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0001510 Growth delay A deficiency or slowing down of growth pre- and postnatally.
HP:0100783 Breast aplasia Failure to develop and congenital absence of the breast.
HP:0001511 Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0002098 Respiratory distress Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
HP:0009939 Mandibular aplasia Absence of the mandible.
HP:0000356 Abnormality of the outer ear An abnormality of the external ear.
HP:0030717 Meconium peritonitis Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.
HP:0004442 Sagittal craniosynostosis A kind of craniosynostosis affecting the sagittal suture.
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0001545 Anteriorly placed anus Anterior malposition of the anus.
HP:0005692 Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0001177 Preaxial hand polydactyly Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
HP:0004691 2-3 toe syndactyly Syndactyly with fusion of toes two and three.
HP:0000047 Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
HP:0001388 Joint laxity Lack of stability of a joint.
HP:0000486 Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0000060 Clitoral hypoplasia Developmental hypoplasia of the clitoris.
HP:0002089 Pulmonary hypoplasia
HP:0002979 Bowing of the legs A bending or abnormal curvature affecting a long bone of the leg.
HP:0006660 Aplastic clavicle Absence of the clavicles as a developmental defect.
HP:0001363 Craniosynostosis Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
HP:0000520 Proptosis An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
HP:0004325 Decreased body weight Abnormally low body weight.
HP:0010709 2-4 finger syndactyly Syndactyly with fusion of the fingers two to four.
HP:0006443 Patellar aplasia Absence of the patella.

YPEL1 NM_013313.5   Gène complet - Taille : 38,258 bases


pLI : 0.61 LOEUF : 0.66 sHet : 0.133 pHaplo : 0.32 pTriplo : 0.5
Localisation : 21,697,536 - 21,735,794

Base de donnée :

DecipherGenomics OMIM:608082 GTEx Portal Human Protein Atlas Ensembl

CRKL NM_005207.4   Gène complet - Taille : 36,340 bases


pLI : 0.45 LOEUF : 0.64 sHet : 0.03 pHaplo : 0.67 pTriplo : 0.94
Localisation : 20,917,407 - 20,953,747

Maladie : Distal 22q11.2 microdeletion syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:602007 Orphanet:261330 HGNC:2363 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0002463 Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
HP:0000276 Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0002205 Recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0001622 Premature birth The birth of a baby of less than 37 weeks of gestational age.
HP:0100490 Camptodactyly of finger The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
HP:0000657 Oculomotor apraxia Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
HP:0000722 Compulsive behaviors Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.
HP:0000324 Facial asymmetry An abnormal difference between the left and right sides of the face.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0000581 Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0000430 Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi.
HP:0002721 Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0000010 Recurrent urinary tract infections Repeated infections of the urinary tract.
HP:0004279 Short palm Short palm.
HP:0009465 Ulnar deviation of finger Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
HP:0001763 Pes planus A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0001660 Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
HP:0002553 Highly arched eyebrow Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
HP:0001659 Aortic regurgitation An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000307 Pointed chin A marked tapering of the lower face to the chin.
HP:0000363 Abnormal earlobe morphology An abnormality of the lobule of pinna.
HP:0001770 Toe syndactyly Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
HP:0100033 Tics Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.
HP:0000407 Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
HP:0000219 Thin upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
HP:0002673 Coxa valga Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
HP:0002607 Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
HP:0001852 Sandal gap A widely spaced gap between the first toe (the great toe) and the second toe.
HP:0001817 Absent fingernail Absence of a fingernail.
HP:0000453 Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0004209 Clinodactyly of the 5th finger Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
HP:0001166 Arachnodactyly Abnormally long and slender fingers ("spider fingers").
HP:0002705 High, narrow palate The presence of a high and narrow palate.
HP:0004942 Aortic aneurysm Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
HP:0002664 Neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
HP:0002021 Pyloric stenosis Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.
HP:0001631 Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000426 Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000160 Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0001510 Growth delay A deficiency or slowing down of growth pre- and postnatally.
HP:0001511 Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0000490 Deeply set eye An eye that is more deeply recessed into the plane of the face than is typical.
HP:0001802 Absent toenail Congenital absence of the toenail.
HP:0000319 Smooth philtrum Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
HP:0007018 Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0006487 Bowing of the long bones A bending or abnormal curvature of a long bone.
HP:0005692 Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0003307 Hyperlordosis Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
HP:0000716 Depression Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0010296 Ankyloglossia Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.
HP:0009795 Branchial fistula A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.
HP:0000272 Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
HP:0009882 Short distal phalanx of finger Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.

HIC2 NM_015094.3   Gène complet - Taille : 34,092 bases


pLI : 1 LOEUF : 0.18 sHet : 0.178 pHaplo : 0.8 pTriplo : 0.94
Localisation : 21,417,371 - 21,451,463

Base de donnée :

DecipherGenomics OMIM:607712 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0001442 Typified by somatic mosaicism Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic.
HP:0004808 Acute myeloid leukemia A form of leukemia characterized by overproduction of an early myeloid cell.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.

PPIL2 NM_014337.4   Gène complet - Taille : 34,015 bases


pLI : 0 LOEUF : 0.58 sHet : 0.018 pHaplo : 0.26 pTriplo : 0.87
Localisation : 21,666,000 - 21,700,015

Base de donnée :

DecipherGenomics OMIM:607588 GTEx Portal Human Protein Atlas Ensembl

SNAP29 NM_004782.4   Gène complet - Taille : 32,207 bases

eye brain/cognition face

pLI : 0.01 LOEUF : 0.86 sHet : 0.019 pHaplo : 0.26 pTriplo : 0.3
Localisation : 20,859,007 - 20,891,214

Maladie : CEDNIK syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:604202 Orphanet:66631 HGNC:11133 PMID:15968592 PMID:2107345 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0003593 Infantile onset Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0000268 Dolichocephaly An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
HP:0000276 Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000478 Abnormality of the eye Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
HP:0009830 Peripheral neuropathy Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
HP:0000504 Abnormality of vision Abnormality of eyesight (visual perception).
HP:0002539 Cortical dysplasia The presence of developmental dysplasia of the cerebral cortex.
HP:0001302 Pachygyria Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
HP:0007447 Diffuse palmoplantar hyperkeratosis Diffuse abnormal thickening of the skin on the palms and soles.
HP:0006887 Intellectual disability, progressive The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000457 Depressed nasal ridge Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0000426 Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0003134 Abnormality of peripheral nerve conduction An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).
HP:0000431 Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0001508 Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0000164 Abnormality of the dentition Any abnormality of the teeth.
HP:0007766 Optic disc hypoplasia Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.
HP:0005280 Depressed nasal bridge Posterior positioning of the nasal root in relation to the overall facial profile for age.
HP:0001271 Polyneuropathy A generalized disorder of peripheral nerves.
HP:0000100 Nephrotic syndrome Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
HP:0001635 Congestive heart failure The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
HP:0001297 Stroke Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
HP:0000648 Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0008064 Ichthyosis An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
HP:0000093 Proteinuria Increased levels of protein in the urine.
HP:0000494 Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0001273 Abnormal corpus callosum morphology Abnormality of the corpus callosum.
HP:0001251 Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0000982 Palmoplantar keratoderma Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
HP:0000496 Abnormality of eye movement An abnormality in voluntary or involuntary eye movements or their control.
HP:0000316 Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0003819 Death in childhood Death in during childhood, defined here as between the ages of 2 and 10 years.
HP:0000253 Progressive microcephaly Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0011951 Aspiration pneumonia Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.
HP:0002126 Polymicrogyria Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
HP:0000400 Macrotia Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
HP:0001284 Areflexia Absence of neurologic reflexes such as the knee-jerk reaction.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002421 Poor head control Difficulty to maintain correct position of the head while standing or sitting.
HP:0000135 Hypogonadism A decreased functionality of the gonad.
HP:0010864 Intellectual disability, severe Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
HP:0000407 Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

DGCR8 NM_022720.7   Gène complet - Taille : 31,656 bases


pLI : 1 LOEUF : 0.21 sHet : 0.303 pHaplo : 0.8 pTriplo : 1
Localisation : 20,080,221 - 20,111,877

Base de donnée :

DecipherGenomics PanelApp OMIM:609030 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0000829 Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0011999 Paranoia An inappropriate feeling of being persecuted or being the subject of hostility from others.
HP:0045025 Narrow palpebral fissure Reduction in the vertical distance between the upper and lower eyelids.
HP:0000278 Retrognathia An abnormality in which the mandible is mislocalised posteriorly.
HP:0000718 Aggressive behavior Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0000194 Open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000712 Emotional lability Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
HP:0012841 Retinal vascular tortuosity The presence of an increased number of twists and turns of the retinal blood vessels.
HP:0001155 Abnormality of the hand An abnormality affecting one or both hands.
HP:0000176 Submucous cleft hard palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0011590 Double aortic arch A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).
HP:0000581 Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0002627 Right aortic arch with mirror image branching The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.
HP:0000598 Abnormality of the ear An abnormality of the ear.
HP:0000430 Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi.
HP:0001883 Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0006549 Unilateral primary pulmonary dysgenesis
HP:0000627 Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0000201 Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0000414 Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0001636 Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0004935 Pulmonary artery atresia A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
HP:0000220 Velopharyngeal insufficiency Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
HP:0005435 Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002719 Recurrent infections Increased susceptibility to infections.
HP:0001537 Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0002901 Hypocalcemia An abnormally decreased calcium concentration in the blood.
HP:0011611 Interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.

UFD1 NM_005659.7   Gène complet - Taille : 29,291 bases


pLI : 1 LOEUF : 0.23
Localisation : 19,449,911 - 19,479,202

Maladie : 22q11.2 deletion syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics OMIM:601754 Orphanet:567 HGNC:12520 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0011324 Multiple suture craniosynostosis Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.
HP:0000717 Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
HP:0000276 Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0000778 Hypoplasia of the thymus Underdevelopment of the thymus.
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0002960 Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000739 Anxiety Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0001646 Abnormal aortic valve morphology Any abnormality of the aortic valve.
HP:0001161 Hand polydactyly A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
HP:0011662 Tricuspid atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.
HP:0000089 Renal hypoplasia Hypoplasia of the kidney.
HP:0001829 Foot polydactyly A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
HP:0000130 Abnormality of the uterus An abnormality of the uterus.
HP:0000076 Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
HP:0000508 Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0001508 Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0000286 Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0000164 Abnormality of the dentition Any abnormality of the teeth.
HP:0001281 Tetany A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
HP:0000600 Abnormality of the pharynx An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
HP:0002251 Aganglionic megacolon An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
HP:0000494 Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0002101 Abnormal lung lobation A developmental defect in the formation of pulmonary lobes.
HP:0000627 Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0002381 Aphasia An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
HP:0001744 Splenomegaly Abnormal increased size of the spleen.
HP:0100750 Atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part.
HP:0001051 Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
HP:0002239 Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
HP:0001537 Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0001053 Hypopigmented skin patches
HP:0000492 Abnormal eyelid morphology An abnormality of the eyelids.
HP:0000829 Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0002435 Meningocele Protrusion of the meninges through a defect of the skull or vertebral column.
HP:0000369 Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0000453 Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0001872 Abnormality of thrombocytes An abnormality of platelets.
HP:0000682 Abnormal dental enamel morphology An abnormality of the dental enamel.
HP:0001136 Retinal arteriolar tortuosity The presence of an increased number of twists and turns of the retinal arterioles.
HP:0001631 Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0001762 Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
HP:0001601 Laryngomalacia Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
HP:0000160 Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0001511 Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0002999 Patellar dislocation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
HP:0000648 Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0002139 Arrhinencephaly A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.
HP:0007018 Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0005692 Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0001999 Abnormal facial shape An abnormal morphology (form) of the face or its components.
HP:0006510 Chronic pulmonary obstruction An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.
HP:0000582 Upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
HP:0005562 Multiple renal cysts The presence of many cysts in the kidney.
HP:0001369 Arthritis Inflammation of a joint.
HP:0000765 Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
HP:0007271 Occipital myelomeningocele
HP:0000979 Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
HP:0000396 Overfolded helix A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
HP:0001061 Acne A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
HP:0002019 Constipation Infrequent or difficult evacuation of feces.
HP:0002099 Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
HP:0002619 Varicose veins Enlarged and tortuous veins.
HP:0000385 Small earlobe Reduced volume of the earlobe.
HP:0002020 Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0000501 Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
HP:0000929 Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.
HP:0100753 Schizophrenia A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0002023 Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0012732 Anorectal anomaly An abnormality of the anus or rectum.
HP:0000262 Turricephaly Tall head relative to width and length.
HP:0000708 Atypical behavior Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0002691 Platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
HP:0000365 Hearing impairment A decreased magnitude of the sensory perception of sound.
HP:0001643 Patent ductus arteriosus In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
HP:0002721 Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0100735 Hypertensive crisis
HP:0001561 Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0000670 Carious teeth Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
HP:0000322 Short philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
HP:0001660 Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
HP:0000518 Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0002650 Scoliosis The presence of an abnormal lateral curvature of the spine.
HP:0000414 Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000405 Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
HP:0000238 Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
HP:0005435 Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0001513 Obesity Accumulation of substantial excess body fat.
HP:0002901 Hypocalcemia An abnormally decreased calcium concentration in the blood.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0000389 Chronic otitis media Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
HP:0000836 Hyperthyroidism An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
HP:0002607 Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
HP:0011496 Corneal neovascularization Ingrowth of new blood vessels into the cornea.
HP:0007302 Bipolar affective disorder Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.
HP:0002566 Intestinal malrotation An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
HP:0001166 Arachnodactyly Abnormally long and slender fingers ("spider fingers").
HP:0008872 Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0001641 Abnormal pulmonary valve morphology Any structural abnormality of the pulmonary valve.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0001873 Thrombocytopenia A reduction in the number of circulating thrombocytes.
HP:0000426 Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000431 Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0012303 Abnormal aortic arch morphology An anomaly of the arch of aorta.
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0000470 Short neck Diminished length of the neck.
HP:0000047 Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
HP:0000113 Polycystic kidney dysplasia The presence of multiple cysts in both kidneys.
HP:0000716 Depression Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0000506 Telecanthus Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
HP:0002414 Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
HP:0000316 Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0000821 Hypothyroidism Deficiency of thyroid hormone.
HP:0003326 Myalgia Pain in muscle.
HP:0000486 Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0001636 Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart and great vessels.
HP:0000568 Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes.
HP:0000343 Long philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
HP:0100765 Abnormality of the tonsils An abnormality of the tonsils.
HP:0001081 Cholelithiasis Hard, pebble-like deposits that form within the gallbladder.
HP:0001256 Intellectual disability, mild Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
HP:0000272 Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

TBX1 NM_001379200.1   Gène complet - Taille : 26,890 bases

brain/cognition

pLI : 0.84 LOEUF : 0.43 sHet : 0.195 pHaplo : 0.85 pTriplo : 0.72
Localisation : 19,756,703 - 19,783,593

Maladie : 22q11.2 deletion syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:602054 Orphanet:567 HGNC:11592 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0011324 Multiple suture craniosynostosis Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.
HP:0000276 Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0000733 Abnormal repetitive mannerisms Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
HP:0000778 Hypoplasia of the thymus Underdevelopment of the thymus.
HP:0000083 Renal insufficiency A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
HP:0004467 Preauricular pit Small indentation anterior to the insertion of the ear.
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000739 Anxiety Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0011662 Tricuspid atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.
HP:0000337 Broad forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
HP:0000130 Abnormality of the uterus An abnormality of the uterus.
HP:0000076 Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
HP:0000233 Thin vermilion border Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
HP:0009891 Underdeveloped supraorbital ridges Flatness of the supraorbital portion of the frontal bones.
HP:0000164 Abnormality of the dentition Any abnormality of the teeth.
HP:0001281 Tetany A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
HP:0000275 Narrow face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
HP:0002251 Aganglionic megacolon An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
HP:0000494 Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0000627 Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0000201 Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0001744 Splenomegaly Abnormal increased size of the spleen.
HP:0100750 Atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part.
HP:0001939 Abnormality of metabolism/homeostasis
HP:0000370 Abnormality of the middle ear An abnormality of the middle ear.
HP:0000218 High palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0001051 Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
HP:0002239 Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
HP:0001053 Hypopigmented skin patches
HP:0008211 Parathyroid agenesis Aplasia of the parathyroid gland.
HP:0011999 Paranoia An inappropriate feeling of being persecuted or being the subject of hostility from others.
HP:0000718 Aggressive behavior Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0002435 Meningocele Protrusion of the meninges through a defect of the skull or vertebral column.
HP:0000369 Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0004209 Clinodactyly of the 5th finger Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
HP:0001872 Abnormality of thrombocytes An abnormality of platelets.
HP:0000682 Abnormal dental enamel morphology An abnormality of the dental enamel.
HP:0002705 High, narrow palate The presence of a high and narrow palate.
HP:0010769 Pilonidal sinus A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.
HP:0001631 Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0001762 Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
HP:0001601 Laryngomalacia Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
HP:0011590 Double aortic arch A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).
HP:0001511 Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0002999 Patellar dislocation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
HP:0000647 Sclerocornea A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
HP:0000319 Smooth philtrum Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
HP:0000648 Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0002139 Arrhinencephaly A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.
HP:0006549 Unilateral primary pulmonary dysgenesis
HP:0001369 Arthritis Inflammation of a joint.
HP:0010055 Broad hallux Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
HP:0000979 Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
HP:0000396 Overfolded helix A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
HP:0002019 Constipation Infrequent or difficult evacuation of feces.
HP:0002619 Varicose veins Enlarged and tortuous veins.
HP:0000385 Small earlobe Reduced volume of the earlobe.
HP:0002020 Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0100627 Displacement of the urethral meatus A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
HP:0000722 Compulsive behaviors Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.
HP:0000708 Atypical behavior Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
HP:0031817 Decreased circulating parathyroid hormone level An abnormally decreased concentration of parathyroid hormone.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0000348 High forehead An abnormally increased height of the forehead.
HP:0001561 Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0000670 Carious teeth Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
HP:0000322 Short philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
HP:0002307 Drooling Habitual flow of saliva out of the mouth.
HP:0000518 Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0002650 Scoliosis The presence of an abnormal lateral curvature of the spine.
HP:0000414 Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0000238 Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
HP:0001513 Obesity Accumulation of substantial excess body fat.
HP:0002901 Hypocalcemia An abnormally decreased calcium concentration in the blood.
HP:0011611 Interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment.
HP:0001674 Complete atrioventricular canal defect A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
HP:0000389 Chronic otitis media Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
HP:0009908 Anterior creases of earlobe Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
HP:0000836 Hyperthyroidism An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
HP:0002566 Intestinal malrotation An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
HP:0001166 Arachnodactyly Abnormally long and slender fingers ("spider fingers").
HP:0000777 Abnormal thymus morphology Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
HP:0001641 Abnormal pulmonary valve morphology Any structural abnormality of the pulmonary valve.
HP:0001155 Abnormality of the hand An abnormality affecting one or both hands.
HP:0000426 Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0001510 Growth delay A deficiency or slowing down of growth pre- and postnatally.
HP:0000598 Abnormality of the ear An abnormality of the ear.
HP:0000110 Renal dysplasia The presence of developmental dysplasia of the kidney.
HP:0001269 Hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
HP:0010978 Abnormality of immune system physiology A functional abnormality of the immune system.
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0000470 Short neck Diminished length of the neck.
HP:0000506 Telecanthus Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
HP:0002414 Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
HP:0000316 Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0000821 Hypothyroidism Deficiency of thyroid hormone.
HP:0003326 Myalgia Pain in muscle.
HP:0000565 Esotropia A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
HP:0000486 Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart and great vessels.
HP:0004935 Pulmonary artery atresia A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
HP:0000220 Velopharyngeal insufficiency Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
HP:0000568 Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes.
HP:0000343 Long philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
HP:0002167 Abnormality of speech or vocalization Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.
HP:0100765 Abnormality of the tonsils An abnormality of the tonsils.
HP:0001081 Cholelithiasis Hard, pebble-like deposits that form within the gallbladder.
HP:0001256 Intellectual disability, mild Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
HP:0006532 Recurrent pneumonia An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
HP:0000268 Dolichocephaly An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
HP:0000717 Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
HP:0000194 Open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth.
HP:0002960 Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0001646 Abnormal aortic valve morphology Any abnormality of the aortic valve.
HP:0001161 Hand polydactyly A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
HP:0011800 Midface retrusion Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
HP:0000089 Renal hypoplasia Hypoplasia of the kidney.
HP:0000712 Emotional lability Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
HP:0001829 Foot polydactyly A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
HP:0000508 Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0001669 Transposition of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0011108 Recurrent sinusitis A recurrent form of sinusitis.
HP:0001508 Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0000286 Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0020046 Accommodative esotropia A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.
HP:0000138 Ovarian cyst The presence of one or more cysts of the ovary.
HP:0000600 Abnormality of the pharynx An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
HP:0002101 Abnormal lung lobation A developmental defect in the formation of pulmonary lobes.
HP:0000122 Unilateral renal agenesis A unilateral form of agenesis of the kidney.
HP:0002381 Aphasia An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
HP:0001680 Coarctation of aorta Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
HP:0000202 Orofacial cleft The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
HP:0001537 Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0000860 Parathyroid hypoplasia Developmental hypoplasia of the parathyroid gland.
HP:0008661 Urethral stenosis Abnormal narrowing of the urethra.
HP:0000492 Abnormal eyelid morphology An abnormality of the eyelids.
HP:0000829 Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0000278 Retrognathia An abnormality in which the mandible is mislocalised posteriorly.
HP:0004383 Hypoplastic left heart Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.
HP:0000453 Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0001136 Retinal arteriolar tortuosity The presence of an increased number of twists and turns of the retinal arterioles.
HP:0001903 Anemia A reduction in erythrocytes volume or hemoglobin concentration.
HP:0000034 Hydrocele testis Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
HP:0000160 Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0007018 Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0005692 Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0001999 Abnormal facial shape An abnormal morphology (form) of the face or its components.
HP:0006510 Chronic pulmonary obstruction An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.
HP:0000582 Upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
HP:0005562 Multiple renal cysts The presence of many cysts in the kidney.
HP:0008419 Intervertebral disc degeneration The presence of degenerative changes of intervertebral disk.
HP:0000765 Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
HP:0007271 Occipital myelomeningocele
HP:0002719 Recurrent infections Increased susceptibility to infections.
HP:0000520 Proptosis An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
HP:0001061 Acne A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
HP:0002099 Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
HP:0000501 Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
HP:0100259 Postaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.
HP:0000929 Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.
HP:0100753 Schizophrenia A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.
HP:0002023 Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
HP:0005105 Abnormal nasal morphology
HP:0012732 Anorectal anomaly An abnormality of the anus or rectum.
HP:0000262 Turricephaly Tall head relative to width and length.
HP:0012841 Retinal vascular tortuosity The presence of an increased number of twists and turns of the retinal blood vessels.
HP:0001397 Hepatic steatosis Steatosis is a term used to denote lipid accumulation within hepatocytes.
HP:0002691 Platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
HP:0000365 Hearing impairment A decreased magnitude of the sensory perception of sound.
HP:0000176 Submucous cleft hard palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
HP:0000581 Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0002627 Right aortic arch with mirror image branching The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.
HP:0001643 Patent ductus arteriosus In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
HP:0001156 Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
HP:0000430 Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi.
HP:0002721 Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0100735 Hypertensive crisis
HP:0000646 Amblyopia Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
HP:0001719 Double outlet right ventricle Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0000577 Exotropia A form of strabismus with one or both eyes deviated outward.
HP:0025312 Esophoria A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.
HP:0001660 Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000405 Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
HP:0005435 Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0012745 Short palpebral fissure Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
HP:0000193 Bifid uvula Uvula separated into two parts most easily seen at the tip.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0045025 Narrow palpebral fissure Reduction in the vertical distance between the upper and lower eyelids.
HP:0002607 Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
HP:0011496 Corneal neovascularization Ingrowth of new blood vessels into the cornea.
HP:0007302 Bipolar affective disorder Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.
HP:0008872 Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0000403 Recurrent otitis media Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
HP:0000750 Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0001873 Thrombocytopenia A reduction in the number of circulating thrombocytes.
HP:0000457 Depressed nasal ridge Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
HP:0000431 Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0001883 Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
HP:0012303 Abnormal aortic arch morphology An anomaly of the arch of aorta.
HP:0010515 Aplasia/Hypoplasia of the thymus Absence or underdevelopment of the thymus.
HP:0000047 Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
HP:0000113 Polycystic kidney dysplasia The presence of multiple cysts in both kidneys.
HP:0000716 Depression Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0000126 Hydronephrosis Severe distention of the kidney with dilation of the renal pelvis and calices.
HP:0001636 Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0000445 Wide nose Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
HP:0000272 Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
HP:0100541 Femoral hernia A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.


SFARI (Base de donnée sur l'autisme) :

No Gene Score
Est syndromique
Pas de score EAGLE
Rapports : 5

PRODH NM_016335.6   Gène complet - Taille : 23,776 bases


pLI : 0 LOEUF : 1.1 pHaplo : 0.39 pTriplo : 0.53
Localisation : 18,912,777 - 18,936,553

Maladie : Hyperprolinemia type 1

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:606810 Orphanet:419 HGNC:9453 PMID:20524212 PMID:234626 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0000752 Hyperactivity Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
HP:0001290 Generalized hypotonia Generalized muscular hypotonia (abnormally low muscle tone).
HP:0100753 Schizophrenia A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.
HP:0000718 Aggressive behavior Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0000093 Proteinuria Increased levels of protein in the urine.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000733 Abnormal repetitive mannerisms Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
HP:0001251 Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0003137 Prolinuria Level of proline in the urine anove the upper limit of normal.
HP:0000112 Nephropathy A nonspecific term referring to disease or damage of the kidneys.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000750 Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age.
HP:0008358 Hyperprolinemia An increased concentration of proline in the blood.
HP:0000729 Autistic behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002353 EEG abnormality Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0003080 Hydroxyprolinuria An increased concentration of 4-hydroxy-L-proline in the urine.
HP:0003108 Hyperglycinuria An increased concentration of glycine in the urine.
HP:0002133 Status epilepticus Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.


SFARI (Base de donnée sur l'autisme) :

Score du gène : 2
Est syndromique
Pas de score EAGLE
Rapports : 6

ZDHHC8 NM_013373.4   Gène complet - Taille : 18,551 bases


pLI : 0.85 LOEUF : 0.37 sHet : 0.305 pHaplo : 0.32 pTriplo : 0.68
Localisation : 20,129,456 - 20,148,007

Base de donnée :

DecipherGenomics OMIM:608784 GTEx Portal Human Protein Atlas Ensembl

P2RX6 NM_005446.5   Gène complet - Taille : 18,205 bases


pLI : 0 LOEUF : 1.1 pHaplo : 0.11 pTriplo : 0.36
Localisation : 21,009,808 - 21,028,013

Base de donnée :

DecipherGenomics OMIM:608077 GTEx Portal Human Protein Atlas Ensembl

GGT2P -   Pas de exons chevauchés / 0 - Taille : 17,581 bases



Localisation : 21,207,973 - 21,225,554

Base de donnée :

DecipherGenomics OMIM:137181 GTEx Portal Human Protein Atlas Ensembl

LZTR1 NM_006767.4   Gène complet - Taille : 16,763 bases


pLI : 0 LOEUF : 1.98 sHet : 0.004 pHaplo : 0.16 pTriplo : 0.4
Localisation : 20,982,269 - 20,999,032

Maladie : Schwannomatosis

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:600574 Orphanet:93921 HGNC:6742 PMID:24362817 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0001743 Abnormality of the spleen An abnormality of the spleen.
HP:0000914 Shield chest A broad chest.
HP:0000465 Webbed neck Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0011800 Midface retrusion Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
HP:0000078 Abnormality of the genital system An abnormality of the genital system.
HP:0006695 Atrioventricular canal defect A defect of the atrioventricular septum of the heart.
HP:0000508 Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0000476 Cystic hygroma A cystic lymphatic lesion of the neck.
HP:0001634 Mitral valve prolapse One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
HP:0009891 Underdeveloped supraorbital ridges Flatness of the supraorbital portion of the frontal bones.
HP:0000286 Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0000962 Hyperkeratosis Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
HP:0011362 Abnormal hair quantity An abnormal amount of hair.
HP:0000494 Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0002967 Cubitus valgus Abnormal positioning in which the elbows are turned out.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0001909 Leukemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
HP:0001621 Weak voice Reduced intensity (volume) of speech.
HP:0000218 High palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0001680 Coarctation of aorta Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
HP:0100763 Abnormality of the lymphatic system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.
HP:0001712 Left ventricular hypertrophy Enlargement or increased size of the heart left ventricle.
HP:0000044 Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
HP:0010880 Increased nuchal translucency Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).
HP:0000407 Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
HP:0002212 Curly hair
HP:0000131 Uterine leiomyoma The presence of a leiomyoma of the uterus.
HP:0000369 Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0001929 Reduced factor XI activity Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.
HP:0010302 Spinal cord tumor A neoplasm affecting the spinal cord.
HP:0004209 Clinodactyly of the 5th finger Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
HP:0001260 Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
HP:0002750 Delayed skeletal maturation A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
HP:0003645 Prolonged partial thromboplastin time Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
HP:0002664 Neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
HP:0001631 Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0003401 Paresthesia Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
HP:0000391 Thickened helices Increased thickness of the helix of the ear.
HP:0001653 Mitral regurgitation An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
HP:0100625 Enlarged thorax
HP:0002240 Hepatomegaly Abnormally increased size of the liver.
HP:0000995 Melanocytic nevus A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
HP:0032152 Keratosis pilaris An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
HP:0001638 Cardiomyopathy A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
HP:0000766 Abnormal sternum morphology An anomaly of the sternum, also known as the breastbone.
HP:0001324 Muscle weakness Reduced strength of muscles.
HP:0005692 Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0007517 Palmoplantar cutis laxa Loose, wrinkled skin of hands and feet.
HP:0001718 Mitral stenosis An abnormal narrowing of the orifice of the mitral valve.
HP:0007477 Abnormal dermatoglyphics An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.
HP:0000360 Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
HP:0045075 Sparse eyebrow Decreased density/number of eyebrow hairs.
HP:0000520 Proptosis An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
HP:0001892 Abnormal bleeding An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
HP:0003829 Typified by incomplete penetrance Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.
HP:0004415 Pulmonary artery stenosis An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0002974 Radioulnar synostosis An abnormal osseous union (fusion) between the radius and the ulna.
HP:0003581 Adult onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0000341 Narrow forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
HP:0410275 Lumbosacral hemangioma A spinal cord hemangioma located in the lumbosacral spine region.
HP:0002804 Arthrogryposis multiplex congenita Multiple congenital contractures in different body areas.
HP:0000365 Hearing impairment A decreased magnitude of the sensory perception of sound.
HP:0004482 Relative macrocephaly A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0001643 Patent ductus arteriosus In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
HP:0001156 Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
HP:0000348 High forehead An abnormally increased height of the forehead.
HP:0006610 Wide intermamillary distance A larger than usual distance between the left and right nipple.
HP:0001561 Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0000325 Triangular face Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0003764 Nevus A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
HP:0000639 Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0000518 Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0002650 Scoliosis The presence of an abnormal lateral curvature of the spine.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0002208 Coarse hair Hair shafts are rough in texture.
HP:0000474 Thickened nuchal skin fold A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.
HP:0011869 Abnormal platelet function Any anomaly in the function of thrombocytes.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0001642 Pulmonic stenosis A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
HP:0011750 Neoplasm of the anterior pituitary A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
HP:0001639 Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
HP:0000974 Hyperextensible skin A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature Absence or underdevelopment of the abdominal musculature.
HP:0000179 Thick lower lip vermilion Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
HP:0008872 Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0002162 Low posterior hairline Hair on the neck extends more inferiorly than usual.
HP:0012032 Lipoma Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
HP:0009589 Bilateral vestibular schwannoma A bilateral vestibular schwannoma (acoustic neurinoma).
HP:0011675 Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
HP:0000358 Posteriorly rotated ears A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
HP:0033748 Hypoesthesia Decreased ability to perceive touch.
HP:0000368 Low-set, posteriorly rotated ears Ears that are low-set and posteriorly rotated.
HP:0001641 Abnormal pulmonary valve morphology Any structural abnormality of the pulmonary valve.
HP:0001004 Lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0002202 Pleural effusion The presence of an excessive amount of fluid in the pleural cavity.
HP:0000953 Hyperpigmentation of the skin A darkening of the skin related to an increase in melanin production and deposition.
HP:0012531 Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
HP:0011636 Abnormal coronary artery origin Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.
HP:0009593 Peripheral schwannoma The presence of a peripheral schwannoma.
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0000470 Short neck Diminished length of the neck.
HP:0002858 Meningioma The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
HP:0002380 Fasciculations Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
HP:0000316 Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0000486 Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0010726 Prominent corneal nerve fibers Abnormal prominence of the corneal nerve fibers.
HP:0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart and great vessels.
HP:0000957 Cafe-au-lait spot Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
HP:0002167 Abnormality of speech or vocalization Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.
HP:0011381 Aplasia of the semicircular canal Absence of the semicircular canal.
HP:0001928 Abnormality of coagulation An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.
HP:0000768 Pectus carinatum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
HP:0100008 Schwannoma A benign nerve sheath tumor composed of Schwann cells.
HP:0000767 Pectus excavatum A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.


SFARI (Base de donnée sur l'autisme) :

Score du gène : 1
N'est pas syndromique
Pas de score EAGLE
Rapports : 14

AIFM3 NM_001386814.1   Gène complet - Taille : 16,252 bases


pLI : 0 LOEUF : 0.99 sHet : 0.004 pHaplo : 0.15 pTriplo : 0.5
Localisation : 20,965,108 - 20,981,360

Base de donnée :

DecipherGenomics OMIM:617298 GTEx Portal Human Protein Atlas Ensembl

ESS2 NM_022719.3   Gène complet - Taille : 14,405 bases


pLI : 0 LOEUF : 0.96
Localisation : 19,130,279 - 19,144,684

Base de donnée :

DecipherGenomics OMIM:601755 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0000829 Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0011999 Paranoia An inappropriate feeling of being persecuted or being the subject of hostility from others.
HP:0045025 Narrow palpebral fissure Reduction in the vertical distance between the upper and lower eyelids.
HP:0000278 Retrognathia An abnormality in which the mandible is mislocalised posteriorly.
HP:0000718 Aggressive behavior Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0000194 Open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000712 Emotional lability Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
HP:0012841 Retinal vascular tortuosity The presence of an increased number of twists and turns of the retinal blood vessels.
HP:0001155 Abnormality of the hand An abnormality affecting one or both hands.
HP:0000176 Submucous cleft hard palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0011590 Double aortic arch A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).
HP:0000581 Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0002627 Right aortic arch with mirror image branching The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.
HP:0000598 Abnormality of the ear An abnormality of the ear.
HP:0000430 Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi.
HP:0001883 Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0006549 Unilateral primary pulmonary dysgenesis
HP:0000627 Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0000201 Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0000414 Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0001636 Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0004935 Pulmonary artery atresia A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
HP:0000220 Velopharyngeal insufficiency Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
HP:0005435 Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002719 Recurrent infections Increased susceptibility to infections.
HP:0001537 Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0002901 Hypocalcemia An abnormally decreased calcium concentration in the blood.
HP:0011611 Interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.

ZNF74 NM_003426.4   Gène complet - Taille : 14,346 bases


pLI : 0 LOEUF : 0.89 sHet : 0.008 pHaplo : 0.2 pTriplo : 0.37
Localisation : 20,394,115 - 20,408,461

Base de donnée :

DecipherGenomics OMIM:194548 GTEx Portal Human Protein Atlas Ensembl

SERPIND1 NM_000185.4   Gène complet - Taille : 13,607 bases


pLI : 0 LOEUF : 1.5 sHet : 0.01 pHaplo : 0.61 pTriplo : 0.41
Localisation : 20,774,113 - 20,787,720

Base de donnée :

DecipherGenomics PanelApp OMIM:142360 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0004761 Post-angioplasty coronary artery restenosis
HP:0004850 Recurrent deep vein thrombosis Repeated episodes of the formation of a blot clot in a deep vein.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0005521 Disseminated intravascular coagulation Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.

SCARF2 NM_182895.5   Gène complet - Taille : 13,242 bases

skin skeleton

pHaplo : 0.95 pTriplo : 0.81
Localisation : 20,424,584 - 20,437,826

Maladie : Van den Ende-Gupta syndrome

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:613619 Orphanet:2460 HGNC:19869 PMID:20887961 PMID:2214038 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0000385 Small earlobe Reduced volume of the earlobe.
HP:0003083 Dislocated radial head A dislocation of the head of the radius from its socket in the elbow joint.
HP:0000960 Sacral dimple A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0001215 Camptodactyly of 2nd-5th fingers The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
HP:0002987 Elbow flexion contracture An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
HP:0009473 Joint contracture of the hand Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
HP:0000773 Short ribs Reduced rib length.
HP:0003100 Slender long bone Reduced diameter of a long bone.
HP:0006380 Knee flexion contracture A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0000232 Everted lower lip vermilion An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
HP:0003577 Congenital onset A phenotypic abnormality that is present at birth.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0000581 Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0000430 Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi.
HP:0000883 Thin ribs Ribs with a reduced diameter.
HP:0010946 Dilatation of the renal pelvis The presence of dilatation of the renal pelvis.
HP:0010493 Long metacarpals An abnormally increased length of the metacarpal bones.
HP:0000534 Abnormal eyebrow morphology An abnormality of the eyebrow.
HP:0000327 Hypoplasia of the maxilla Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0001182 Tapered finger The gradual reduction in girth of the finger from proximal to distal.
HP:0000218 High palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0000411 Protruding ear Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
HP:0000894 Short clavicles Reduced length of the clavicles.
HP:0006236 Slender metacarpals Decreased width of the metacarpal bones (that is, reduced diameter).
HP:0000895 Lateral clavicle hook An excessive upward convexity of the lateral clavicle.
HP:0005709 2-3 toe cutaneous syndactyly
HP:0010307 Stridor Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
HP:0030799 Scaphocephaly Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.
HP:0006633 Glenoid fossa hypoplasia Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.
HP:0000452 Choanal stenosis Abnormal narrowing of the choana (the posterior nasal aperture).
HP:0001166 Arachnodactyly Abnormally long and slender fingers ("spider fingers").
HP:0000678 Dental crowding Changes in alignment of teeth in the dental arch
HP:0000444 Convex nasal ridge Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
HP:0001822 Hallux valgus Lateral deviation of the great toe (i.e., in the direction of the little toe).
HP:0002705 High, narrow palate The presence of a high and narrow palate.
HP:0003031 Ulnar bowing Bending of the diaphysis (shaft) of the ulna.
HP:0000358 Posteriorly rotated ears A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
HP:0001836 Camptodactyly of toe Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
HP:0005033 Distal ulnar hypoplasia Underdevelopment of the distal portion of the ulna.
HP:0001762 Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
HP:0001601 Laryngomalacia Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
HP:0001786 Narrow foot A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.
HP:0000160 Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0000460 Narrow nose Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
HP:0001847 Long hallux Increased length of the big toe.
HP:0000647 Sclerocornea A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
HP:0005280 Depressed nasal bridge Posterior positioning of the nasal root in relation to the overall facial profile for age.
HP:0000882 Hypoplastic scapulae Underdeveloped scapula.
HP:0001195 Single umbilical artery Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.
HP:0001363 Craniosynostosis Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
HP:0002980 Femoral bowing Bowing (abnormal curvature) of the femur.
HP:0000396 Overfolded helix A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
HP:0000272 Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
HP:0000767 Pectus excavatum A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.

RANBP1 NM_001278639.2   Gène complet - Taille : 11,417 bases


pLI : 0.63 LOEUF : 0.93 sHet : 0.154 pHaplo : 0.39 pTriplo : 0.93
Localisation : 20,115,938 - 20,127,355

Base de donnée :

DecipherGenomics OMIM:601180 GTEx Portal Human Protein Atlas Ensembl

SEPTIN5 NM_002688.6   Gène complet - Taille : 9,721 bases


pLI : 0.93 LOEUF : 0.36
Localisation : 19,714,503 - 19,724,224

Base de donnée :

DecipherGenomics OMIM:602724 GTEx Portal Human Protein Atlas Ensembl

DGCR6 NM_005675.6   Gène complet - Taille : 8,210 bases


pLI : 0 LOEUF : 1.83 pHaplo : 0.2 pTriplo : 0.52
Localisation : 18,906,028 - 18,914,238

Base de donnée :

DecipherGenomics OMIM:601279 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0000829 Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0011999 Paranoia An inappropriate feeling of being persecuted or being the subject of hostility from others.
HP:0045025 Narrow palpebral fissure Reduction in the vertical distance between the upper and lower eyelids.
HP:0000278 Retrognathia An abnormality in which the mandible is mislocalised posteriorly.
HP:0000718 Aggressive behavior Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
HP:0000194 Open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000712 Emotional lability Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
HP:0012841 Retinal vascular tortuosity The presence of an increased number of twists and turns of the retinal blood vessels.
HP:0001155 Abnormality of the hand An abnormality affecting one or both hands.
HP:0000176 Submucous cleft hard palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0011590 Double aortic arch A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).
HP:0000581 Blepharophimosis A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0002627 Right aortic arch with mirror image branching The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.
HP:0000598 Abnormality of the ear An abnormality of the ear.
HP:0000430 Underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi.
HP:0001883 Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0006549 Unilateral primary pulmonary dysgenesis
HP:0000627 Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0000201 Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0000414 Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0001636 Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0004935 Pulmonary artery atresia A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
HP:0000220 Velopharyngeal insufficiency Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
HP:0005435 Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002719 Recurrent infections Increased susceptibility to infections.
HP:0001537 Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0002901 Hypocalcemia An abnormally decreased calcium concentration in the blood.
HP:0011611 Interrupted aortic arch Non-continuity of the arch of aorta with an atretic point or absent segment.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.

DGCR6L NM_033257.4   Gène complet - Taille : 5,842 bases


pLI : 0 LOEUF : 1.27 sHet : 0.024 pHaplo : 0.07 pTriplo : 0.34
Localisation : 20,314,238 - 20,320,080

Base de donnée :

DecipherGenomics OMIM:609459 GTEx Portal Human Protein Atlas Ensembl

RIMBP3C NM_001128633.2   Gène complet - Taille : 5,795 bases


pHaplo : 0.13 pTriplo : 0.58
Localisation : 21,545,666 - 21,551,461

Base de donnée :

DecipherGenomics OMIM:612701 GTEx Portal Human Protein Atlas Ensembl

RIMBP3B NM_001128635.2   Gène complet - Taille : 5,727 bases


pHaplo : 0.13 pTriplo : 0.27
Localisation : 21,383,751 - 21,389,478

Base de donnée :

DecipherGenomics OMIM:612700 GTEx Portal Human Protein Atlas Ensembl

TRMT2A NM_022727.6   Gène complet - Taille : 5,517 bases


pLI : 0 LOEUF : 0.92 sHet : 0.018 pHaplo : 0.28 pTriplo : 0.67
Localisation : 20,111,875 - 20,117,392

Base de donnée :

DecipherGenomics OMIM:611151 GTEx Portal Human Protein Atlas Ensembl

CLDN5 NM_001363066.2   Gène complet - Taille : 4,521 bases


pLI : 0.9 LOEUF : 0.41 pHaplo : 0.68 pTriplo : 0.6
Localisation : 19,523,024 - 19,527,545

Maladie : cldn5-related neurodevelopmental disorder

Source : DDG2P

Base de donnée :

DecipherGenomics PanelApp OMIM:602101 GTEx Portal Human Protein Atlas Ensembl

SLC7A4 NM_004173.3   Gène complet - Taille : 4,122 bases


pLI : 0 LOEUF : 1.23 sHet : 0.004 pHaplo : 0.2 pTriplo : 0.34
Localisation : 21,028,718 - 21,032,840

Base de donnée :

DecipherGenomics OMIM:603752 GTEx Portal Human Protein Atlas Ensembl

MRPL40 NM_003776.4   Gène complet - Taille : 3,530 bases


pLI : 0.05 LOEUF : 0.79 sHet : 0.014 pHaplo : 0.24 pTriplo : 0.48
Localisation : 19,432,545 - 19,436,075

Base de donnée :

DecipherGenomics PanelApp OMIM:605089 GTEx Portal Human Protein Atlas Ensembl

GSC2 NM_005315.2   Gène complet - Taille : 3,299 bases


pLI : 0 LOEUF : 1.91 pHaplo : 0.41 pTriplo : 0.08
Localisation : 19,146,993 - 19,150,292

Base de donnée :

DecipherGenomics OMIM:601845 GTEx Portal Human Protein Atlas Ensembl

SLC25A1 NM_005984.5   Gène complet - Taille : 3,158 bases

brain/cognition

pLI : 0.06 LOEUF : 0.65 sHet : 0.065 pHaplo : 0.09 pTriplo : 0.38
Localisation : 19,175,581 - 19,178,739

Maladie : Presynaptic congenital myasthenic syndromes

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:190315 Orphanet:98914 HGNC:10979 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0011968 Feeding difficulties Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
HP:0002020 Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0008443 Neuropathic spinal arthropathy A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.
HP:0003623 Neonatal onset Onset of signs or symptoms of disease within the first 28 days of life.
HP:0000276 Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0000817 Reduced eye contact A reduced frequency or duration of eye contact.
HP:0002205 Recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
HP:0031936 Delayed ability to walk A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
HP:0004885 Episodic respiratory distress
HP:0002015 Dysphagia Difficulty in swallowing.
HP:0003388 Easy fatigability Increased susceptibility to fatigue.
HP:0002119 Ventriculomegaly An increase in size of the ventricular system of the brain.
HP:0002872 Apneic episodes precipitated by illness, fatigue, stress Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.
HP:0002392 EEG with polyspike wave complexes The presence of complexes of repetitive spikes and waves in EEG.
HP:0000256 Macrocephaly Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
HP:0001618 Dysphonia Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
HP:0000508 Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0002094 Dyspnea Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
HP:0002804 Arthrogryposis multiplex congenita Multiple congenital contractures in different body areas.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0002515 Waddling gait Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
HP:0040144 L-2-hydroxyglutaric aciduria An increase in the level of L-2-hydroxyglutaric acid in the urine.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0003325 Limb-girdle muscle weakness Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.
HP:0012448 Delayed myelination Delayed myelination.
HP:0000961 Cyanosis Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
HP:0001561 Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0001374 Congenital hip dislocation
HP:0030842 Choking episodes Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.
HP:0001251 Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0030205 Increased jitter at single fiber EMG The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).
HP:0001612 Weak cry
HP:0002870 Obstructive sleep apnea Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction.
HP:0001321 Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
HP:0000639 Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0002359 Frequent falls
HP:0000308 Microretrognathia A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000218 High palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0003306 Spinal rigidity Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
HP:0002882 Sudden episodic apnea Recurrent bouts of sudden, severe apnea that may be life-threatening.
HP:0001284 Areflexia Absence of neurologic reflexes such as the knee-jerk reaction.
HP:0001558 Decreased fetal movement An abnormal reduction in quantity or strength of fetal movements.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0002033 Poor suck An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
HP:0004661 Frontalis muscle weakness Reduced strength of the frontalis muscle (which is located on the forehead).
HP:0001283 Bulbar palsy Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
HP:0100285 EMG: impaired neuromuscular transmission An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).
HP:0002421 Poor head control Difficulty to maintain correct position of the head while standing or sitting.
HP:0000407 Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
HP:0003593 Infantile onset Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0000467 Neck muscle weakness Decreased strength of the neck musculature.
HP:0008981 Calf muscle hypertrophy Muscle hypertrophy affecting the calf muscles.
HP:0001270 Motor delay A type of Developmental delay characterized by a delay in acquiring motor skills.
HP:0003701 Proximal muscle weakness A lack of strength of the proximal muscles.
HP:0010307 Stridor Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
HP:0000369 Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0030208 Anti-acetylcholine receptor antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.
HP:0005943 Respiratory arrest
HP:0007178 Motor polyneuropathy
HP:0003693 Distal amyotrophy Muscular atrophy affecting muscles in the distal portions of the extremities.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0011469 Nasal regurgitation Regurgitation of milk through the nose.
HP:0009053 Distal lower limb muscle weakness Reduced strength of the distal musculature of the legs.
HP:0003473 Fatigable weakness A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0003458 EMG: myopathic abnormalities The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
HP:0010536 Central sleep apnea Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.
HP:0006829 Severe muscular hypotonia A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
HP:0002355 Difficulty walking Reduced ability to walk (ambulate).
HP:0100704 Cerebral visual impairment A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
HP:0000651 Diplopia Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
HP:0012801 Narrow jaw Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).
HP:0001274 Agenesis of corpus callosum Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
HP:0025401 Staring gaze An abnormality in which the eyes are held permanently wide open.
HP:0001761 Pes cavus An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0030051 Tip-toe gait An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
HP:0003324 Generalized muscle weakness Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
HP:0002240 Hepatomegaly Abnormally increased size of the liver.
HP:0001265 Hyporeflexia Reduction of neurologic reflexes such as the knee-jerk reaction.
HP:0033092 Increased urine succinate level The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal.
HP:0001324 Muscle weakness Reduced strength of muscles.
HP:0001298 Encephalopathy Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
HP:0001388 Joint laxity Lack of stability of a joint.
HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness
HP:0000565 Esotropia A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
HP:0000602 Ophthalmoplegia Paralysis of one or more extraocular muscles that are responsible for eye movements.
HP:0002093 Respiratory insufficiency
HP:0100295 Muscle fiber atrophy
HP:0012402 Increased urine alpha-ketoglutarate concentration A greater than normal concentration of 2-oxoglutaric acid in the urine.
HP:0002751 Kyphoscoliosis An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
HP:0000768 Pectus carinatum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
HP:0000737 Irritability A proneness to anger, i.e., a tendency to become easily bothered or annoyed.

THAP7 NM_030573.3   Gène complet - Taille : 3,092 bases


pLI : 0.01 LOEUF : 0.86 sHet : 0.057 pHaplo : 0.37 pTriplo : 0.73
Localisation : 20,999,104 - 21,002,196

Base de donnée :

DecipherGenomics OMIM:609518 GTEx Portal Human Protein Atlas Ensembl

SDF2L1 NM_022044.3   Gène complet - Taille : 1,997 bases


pLI : 0.19 LOEUF : 0.95 pHaplo : 0.25 pTriplo : 0.52
Localisation : 21,642,302 - 21,644,299

Base de donnée :

DecipherGenomics OMIM:607551 GTEx Portal Human Protein Atlas Ensembl

YDJC NM_001017964.2   Gène complet - Taille : 1,975 bases


pLI : 0.06 LOEUF : 1 pHaplo : 0.24 pTriplo : 0.48
Localisation : 21,628,089 - 21,630,064

Base de donnée :

DecipherGenomics OMIM:619770 GTEx Portal Human Protein Atlas Ensembl

TSSK2 NM_053006.5   Gène complet - Taille : 1,314 bases


pLI : 0 LOEUF : 1.15 sHet : 0.009 pHaplo : 0.23 pTriplo : 0.36
Localisation : 19,131,308 - 19,132,622

Base de donnée :

DecipherGenomics OMIM:610710 GTEx Portal Human Protein Atlas Ensembl

GP1BB NM_000407.5   Gène complet - Taille : 1,232 bases


pLI : 0.51 LOEUF : 1.33 pHaplo : 0.25 pTriplo : 0.53
Localisation : 19,723,539 - 19,724,771

Maladie : Fetal and neonatal alloimmune thrombocytopenia

Source : Orphanet

Base de donnée :

DecipherGenomics PanelApp OMIM:138720 Orphanet:853 HGNC:4440 GTEx Portal Human Protein Atlas Ensembl

Human Phenotype Ontology   Montrer/Cacher

HP:0011324 Multiple suture craniosynostosis Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.
HP:0000717 Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
HP:0012587 Macroscopic hematuria Hematuria that is visible upon inspection of the urine.
HP:0000276 Long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0000778 Hypoplasia of the thymus Underdevelopment of the thymus.
HP:0000023 Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0002960 Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0000028 Cryptorchidism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000739 Anxiety Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
HP:0001646 Abnormal aortic valve morphology Any abnormality of the aortic valve.
HP:0001161 Hand polydactyly A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
HP:0011662 Tricuspid atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.
HP:0000089 Renal hypoplasia Hypoplasia of the kidney.
HP:0001829 Foot polydactyly A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
HP:0000130 Abnormality of the uterus An abnormality of the uterus.
HP:0000076 Vesicoureteral reflux Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
HP:0000508 Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0003577 Congenital onset A phenotypic abnormality that is present at birth.
HP:0000252 Microcephaly Head circumference below 2 standard deviations below the mean for age and gender.
HP:0001508 Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0000286 Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0000164 Abnormality of the dentition Any abnormality of the teeth.
HP:0031364 Ecchymosis A purpuric lesion that is larger than 1 cm in diameter.
HP:0001281 Tetany A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
HP:0000790 Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
HP:0000600 Abnormality of the pharynx An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
HP:0002251 Aganglionic megacolon An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
HP:0000494 Downslanted palpebral fissures The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0002101 Abnormal lung lobation A developmental defect in the formation of pulmonary lobes.
HP:0000627 Posterior embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0002381 Aphasia An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
HP:0001744 Splenomegaly Abnormal increased size of the spleen.
HP:0100750 Atelectasis Collapse of part of a lung associated with absence of inflation (air) of that part.
HP:0000707 Abnormality of the nervous system An abnormality of the nervous system.
HP:0001051 Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
HP:0004406 Spontaneous, recurrent epistaxis
HP:0000978 Bruising susceptibility An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
HP:0002239 Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
HP:0006298 Prolonged bleeding after dental extraction Prolonged bleeding post dental extraction sufficient to require medical intervention.
HP:0001537 Umbilical hernia Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0001053 Hypopigmented skin patches
HP:0000967 Petechiae Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
HP:0000492 Abnormal eyelid morphology An abnormality of the eyelids.
HP:0008738 Partially duplicated kidney The presence of a partially duplicated kidney.
HP:0000829 Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0000225 Gingival bleeding Hemorrhage affecting the gingiva.
HP:0002435 Meningocele Protrusion of the meninges through a defect of the skull or vertebral column.
HP:0000369 Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0000453 Choanal atresia Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0001611 Hypernasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0007420 Spontaneous hematomas Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
HP:0001872 Abnormality of thrombocytes An abnormality of platelets.
HP:0000682 Abnormal dental enamel morphology An abnormality of the dental enamel.
HP:0001136 Retinal arteriolar tortuosity The presence of an increased number of twists and turns of the retinal arterioles.
HP:0100021 Cerebral palsy Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.
HP:0001631 Atrial septal defect Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0001762 Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
HP:0001601 Laryngomalacia Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
HP:0000160 Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0001511 Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0002999 Patellar dislocation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
HP:0000648 Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0002139 Arrhinencephaly A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.
HP:0007018 Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0005692 Joint hyperflexibility Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0001999 Abnormal facial shape An abnormal morphology (form) of the face or its components.
HP:0006510 Chronic pulmonary obstruction An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.
HP:0000582 Upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
HP:0005562 Multiple renal cysts The presence of many cysts in the kidney.
HP:0001369 Arthritis Inflammation of a joint.
HP:0000765 Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
HP:0007271 Occipital myelomeningocele
HP:0002076 Migraine Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
HP:0000979 Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
HP:0004846 Prolonged bleeding after surgery Bleeding that persists longer than the normal time following a surgical procedure.
HP:0000396 Overfolded helix A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
HP:0001892 Abnormal bleeding An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
HP:0001061 Acne A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
HP:0002019 Constipation Infrequent or difficult evacuation of feces.
HP:0002099 Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
HP:0001902 Giant platelets Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
HP:0002619 Varicose veins Enlarged and tortuous veins.
HP:0000385 Small earlobe Reduced volume of the earlobe.
HP:0002020 Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0000501 Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
HP:0002248 Hematemesis The vomiting of blood.
HP:0000929 Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.
HP:0100753 Schizophrenia A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.
HP:0001250 Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0002023 Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
HP:0000175 Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0012732 Anorectal anomaly An abnormality of the anus or rectum.
HP:0000262 Turricephaly Tall head relative to width and length.
HP:0000708 Atypical behavior Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
HP:0000347 Micrognathia Developmental hypoplasia of the mandible.
HP:0002138 Subarachnoid hemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater.
HP:0003010 Prolonged bleeding time Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
HP:0002691 Platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
HP:0011879 Decreased platelet glycoprotein Ib-IX-V Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.
HP:0000365 Hearing impairment A decreased magnitude of the sensory perception of sound.
HP:0000132 Menorrhagia Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
HP:0000007 Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0008619 Bilateral sensorineural hearing impairment A bilateral form of sensorineural hearing impairment.
HP:0001643 Patent ductus arteriosus In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
HP:0002721 Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0100735 Hypertensive crisis
HP:0001561 Polyhydramnios The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0004322 Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0000670 Carious teeth Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
HP:0000322 Short philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
HP:0001660 Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
HP:0000518 Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0002650 Scoliosis The presence of an abnormal lateral curvature of the spine.
HP:0002249 Melena The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
HP:0000414 Bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0001249 Intellectual disability Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
HP:0000405 Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
HP:0000238 Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
HP:0005435 Impaired T cell function Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0001252 Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0001513 Obesity Accumulation of substantial excess body fat.
HP:0040185 Macrothrombocytopenia
HP:0002901 Hypocalcemia An abnormally decreased calcium concentration in the blood.
HP:0001328 Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0000389 Chronic otitis media Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
HP:0000836 Hyperthyroidism An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
HP:0002607 Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
HP:0011496 Corneal neovascularization Ingrowth of new blood vessels into the cornea.
HP:0007302 Bipolar affective disorder Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.
HP:0004809 Neonatal alloimmune thrombocytopenia Low platelet count associated with maternal platelet-specific alloantibodies.
HP:0002170 Intracranial hemorrhage Hemorrhage occurring within the skull.
HP:0002566 Intestinal malrotation An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
HP:0001166 Arachnodactyly Abnormally long and slender fingers ("spider fingers").
HP:0000421 Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
HP:0008872 Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0012143 Abnormal megakaryocyte morphology Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.
HP:0001641 Abnormal pulmonary valve morphology Any structural abnormality of the pulmonary valve.
HP:0001263 Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0001873 Thrombocytopenia A reduction in the number of circulating thrombocytes.
HP:0000426 Prominent nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000431 Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0012303 Abnormal aortic arch morphology An anomaly of the arch of aorta.
HP:0001629 Ventricular septal defect A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0000470 Short neck Diminished length of the neck.
HP:0000047 Hypospadias Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
HP:0000113 Polycystic kidney dysplasia The presence of multiple cysts in both kidneys.
HP:0000716 Depression Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
HP:0000506 Telecanthus Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
HP:0012541 Cephalohematoma Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.
HP:0002414 Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
HP:0000316 Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0000821 Hypothyroidism Deficiency of thyroid hormone.
HP:0003326 Myalgia Pain in muscle.
HP:0000486 Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0001636 Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0030680 Abnormal cardiovascular system morphology Any structural anomaly of the heart and great vessels.
HP:0011871 Impaired ristocetin-induced platelet aggregation Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.
HP:0000568 Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes.
HP:0000343 Long philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
HP:0100765 Abnormality of the tonsils An abnormality of the tonsils.
HP:0001081 Cholelithiasis Hard, pebble-like deposits that form within the gallbladder.
HP:0000618 Blindness Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
HP:0001256 Intellectual disability, mild Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
HP:0000272 Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

MIR185 -   Pas de exons chevauchés / 0 - Taille : 81 bases



Localisation : 20,033,139 - 20,033,220

Base de donnée :

DecipherGenomics OMIM:615576 GTEx Portal Human Protein Atlas Ensembl

MIR130B -   Pas de exons chevauchés / 0 - Taille : 81 bases



Localisation : 21,653,304 - 21,653,385

Base de donnée :

DecipherGenomics OMIM:613682 GTEx Portal Human Protein Atlas Ensembl


138 Gène(s) Non-OMIM chevauché(s)

C22orf39
Taille : 96,343 bases

pLI : 0 LOEUF : 1.77 pHaplo : 0.09 pTriplo : 0.31
Localisation : 19,351,368 - 19,447,711

ENSG00000290983
Taille : 74,844 bases


Localisation : 21,208,138 - 21,282,982

ENSG00000283809
Taille : 41,494 bases


Localisation : 18,906,238 - 18,947,732

ENSG00000287146
Taille : 36,932 bases


Localisation : 19,291,969 - 19,328,901

ENSG00000290981
Taille : 40,684 bases


Localisation : 20,616,230 - 20,656,914

PI4KAP2
Taille : 44,533 bases


Localisation : 21,473,000 - 21,517,533

COMT
Taille : 28,604 bases

pLI : 0 LOEUF : 1.7 sHet : 0.007 pHaplo : 0.27 pTriplo : 0.48
Localisation : 19,941,371 - 19,969,975

ENSG00000290950
Taille : 22,118 bases


Localisation : 20,350,578 - 20,372,696

SMPD4P1
Taille : 23,539 bases


Localisation : 20,602,595 - 20,626,134

ENSG00000291240
Taille : 24,325 bases


Localisation : 21,008,247 - 21,032,572

FAM230B
Taille : 24,398 bases


Localisation : 21,167,758 - 21,192,156

FAM230H
Taille : 24,052 bases


Localisation : 21,300,990 - 21,325,042

ENSG00000284294
Taille : 11,330 bases


Localisation : 18,936,411 - 18,947,741

ENSG00000280418
Taille : 7,578 bases


Localisation : 18,951,934 - 18,959,512

CELSR1P1
Taille : 8,665 bases


Localisation : 18,985,836 - 18,994,501

ENSG00000284874
Taille : 7,552 bases


Localisation : 19,717,220 - 19,724,772

RTL10
Taille : 8,758 bases


Localisation : 19,846,138 - 19,854,896

ENSG00000289960
Taille : 12,447 bases


Localisation : 19,854,972 - 19,867,419

ENSG00000236540
Taille : 12,539 bases


Localisation : 20,058,030 - 20,070,569

PRODHLP
Taille : 13,456 bases


Localisation : 20,299,760 - 20,313,216

FAM230G
Taille : 15,567 bases

pLI : 0.4 LOEUF : 1.69
Localisation : 20,338,805 - 20,354,372

USP41
Taille : 13,630 bases

pLI : 0 LOEUF : 1.21
Localisation : 20,363,621 - 20,377,251

ENSG00000277971
Taille : 17,379 bases


Localisation : 20,429,241 - 20,446,620

POM121L4P
Taille : 9,009 bases


Localisation : 20,689,929 - 20,698,938

LINC01637
Taille : 7,590 bases


Localisation : 20,957,092 - 20,964,682

ENSG00000285314
Taille : 18,659 bases


Localisation : 20,979,462 - 20,998,121

THAP7-AS1
Taille : 8,456 bases


Localisation : 21,001,886 - 21,010,342

ENSG00000226872
Taille : 12,763 bases


Localisation : 21,031,354 - 21,044,117

ENSG00000290799
Taille : 9,769 bases


Localisation : 21,035,243 - 21,045,012

LRRC74B
Taille : 18,222 bases

pLI : 0 LOEUF : 1.83
Localisation : 21,045,946 - 21,064,168

ENSG00000284665
Taille : 9,936 bases


Localisation : 21,071,082 - 21,081,018

ENSG00000291044
Taille : 19,302 bases


Localisation : 21,102,984 - 21,122,286

ENSG00000197210
Taille : 9,844 bases


Localisation : 21,114,607 - 21,124,451

ENSG00000290961
Taille : 10,395 bases


Localisation : 21,193,360 - 21,203,755

ENSG00000207751
Taille : 18,053 bases


Localisation : 21,652,184 - 21,670,237

ENSG00000283583
Taille : 630 bases


Localisation : 18,980,695 - 18,981,325

ENSG00000271275
Taille : 457 bases


Localisation : 18,997,138 - 18,997,595

ENSG00000283366
Taille : 153 bases


Localisation : 19,014,353 - 19,014,506

ENSG00000270393
Taille : 873 bases


Localisation : 19,018,043 - 19,018,916

FAM246C
Taille : 1,718 bases


Localisation : 19,029,524 - 19,031,242

CA15P1
Taille : 3,000 bases


Localisation : 19,031,564 - 19,034,564

Y_RNA
Taille : 111 bases


Localisation : 19,045,256 - 19,045,367

DGCR11
Taille : 2,213 bases


Localisation : 19,046,162 - 19,048,375

ENSG00000237347
Taille : 711 bases


Localisation : 19,055,801 - 19,056,512

ENSG00000281530
Taille : 802 bases


Localisation : 19,061,041 - 19,061,843

ENSG00000223461
Taille : 2,974 bases


Localisation : 19,121,529 - 19,124,503

ENSG00000272682
Taille : 4,140 bases


Localisation : 19,124,309 - 19,128,449

TSSK1A
Taille : 767 bases


Localisation : 19,124,879 - 19,125,646

ENSG00000289481
Taille : 798 bases


Localisation : 19,170,816 - 19,171,614

LINC01311
Taille : 1,456 bases


Localisation : 19,171,395 - 19,172,851

ENSG00000286367
Taille : 3,681 bases


Localisation : 19,196,402 - 19,200,083

ENSG00000230194
Taille : 296 bases


Localisation : 19,238,443 - 19,238,739

ENSG00000251940
Taille : 93 bases


Localisation : 19,249,873 - 19,249,966

KRT18P62
Taille : 1,286 bases


Localisation : 19,257,520 - 19,258,806

RN7SL168P
Taille : 278 bases


Localisation : 19,365,766 - 19,366,044

UFD1-AS1
Taille : 2,212 bases


Localisation : 19,447,893 - 19,450,105

ENSG00000273300
Taille : 426 bases


Localisation : 19,454,179 - 19,454,605

ENSG00000273212
Taille : 459 bases


Localisation : 19,456,503 - 19,456,962

ENSG00000287652
Taille : 2,197 bases


Localisation : 19,520,572 - 19,522,769

LINC00895
Taille : 1,636 bases


Localisation : 19,565,203 - 19,566,839

ENSG00000230485
Taille : 2,824 bases


Localisation : 19,630,750 - 19,633,574

ENSG00000225007
Taille : 532 bases


Localisation : 19,667,023 - 19,667,555

RPL7AP70
Taille : 800 bases


Localisation : 19,792,294 - 19,793,094

ENSG00000232926
Taille : 681 bases


Localisation : 19,887,289 - 19,887,970

ENSG00000289946
Taille : 5,837 bases


Localisation : 19,933,661 - 19,939,498

MIR4761
Taille : 81 bases


Localisation : 19,963,753 - 19,963,834

ENSG00000268292
Taille : 1,153 bases


Localisation : 20,064,552 - 20,065,705

Metazoa_SRP
Taille : 249 bases


Localisation : 20,070,716 - 20,070,965

MIR3618
Taille : 87 bases


Localisation : 20,085,746 - 20,085,833

MIR1306
Taille : 84 bases


Localisation : 20,086,058 - 20,086,142

ENSG00000243762
Taille : 1,054 bases


Localisation : 20,110,821 - 20,111,875

MIR6816
Taille : 65 bases


Localisation : 20,114,686 - 20,114,751

SNORA77B
Taille : 124 bases


Localisation : 20,126,402 - 20,126,526

CCDC188
Taille : 2,639 bases

pLI : 0 LOEUF : 1.16
Localisation : 20,148,416 - 20,151,055

LINC02891
Taille : 6,189 bases


Localisation : 20,198,729 - 20,204,918

LINC00896
Taille : 2,144 bases


Localisation : 20,206,380 - 20,208,524

MIR1286
Taille : 77 bases


Localisation : 20,249,134 - 20,249,211

ENSG00000273343
Taille : 630 bases


Localisation : 20,318,119 - 20,318,749

ENSG00000273139
Taille : 1,104 bases


Localisation : 20,320,104 - 20,321,208

ENSG00000235578
Taille : 1,162 bases


Localisation : 20,343,203 - 20,344,365

ENSG00000287446
Taille : 5,629 bases


Localisation : 20,348,758 - 20,354,387

RNU6-225P
Taille : 102 bases


Localisation : 20,416,797 - 20,416,899

ENSG00000215493
Taille : 1,702 bases


Localisation : 20,450,122 - 20,451,824

RNY1P9
Taille : 108 bases


Localisation : 20,475,203 - 20,475,311

Y_RNA
Taille : 110 bases


Localisation : 20,481,158 - 20,481,268

RN7SL812P
Taille : 278 bases


Localisation : 20,481,935 - 20,482,213

KRT18P5
Taille : 1,290 bases


Localisation : 20,482,815 - 20,484,105

ENSG00000236003
Taille : 1,800 bases


Localisation : 20,522,070 - 20,523,870

CCDC74BP1
Taille : 4,722 bases


Localisation : 20,587,496 - 20,592,218

IGLL4P
Taille : 132 bases


Localisation : 20,632,619 - 20,632,751

SLC9A3P2
Taille : 2,020 bases


Localisation : 20,652,730 - 20,654,750

ABHD17AP4
Taille : 3,148 bases


Localisation : 20,667,836 - 20,670,984

ENSG00000290982
Taille : 1,286 bases


Localisation : 20,690,031 - 20,691,317

BCRP5
Taille : 972 bases


Localisation : 20,697,962 - 20,698,934

TMEM191A
Taille : 3,492 bases


Localisation : 20,701,114 - 20,704,606

TMEM191A
Taille : 2,483 bases


Localisation : 20,702,007 - 20,704,490

ENSG00000272600
Taille : 2,008 bases


Localisation : 20,889,206 - 20,891,214

ENSG00000272829
Taille : 882 bases


Localisation : 20,981,351 - 20,982,233

ENSG00000284060
Taille : 6,558 bases


Localisation : 21,002,895 - 21,009,453

TUBA3FP
Taille : 6,099 bases


Localisation : 21,008,193 - 21,014,292

MIR649
Taille : 96 bases


Localisation : 21,034,176 - 21,034,272

P2RX6P
Taille : 2,674 bases


Localisation : 21,042,343 - 21,045,017

TUBA3GP
Taille : 4,635 bases


Localisation : 21,065,462 - 21,070,097

BCRP2
Taille : 3,829 bases


Localisation : 21,115,929 - 21,119,758

POM121L7P
Taille : 2,403 bases


Localisation : 21,125,660 - 21,128,063

E2F6P2
Taille : 747 bases


Localisation : 21,141,624 - 21,142,371

ENSG00000234503
Taille : 1,983 bases


Localisation : 21,177,892 - 21,179,875

FAM247A
Taille : 177 bases


Localisation : 21,203,454 - 21,203,631

ENSG00000283145
Taille : 378 bases


Localisation : 21,228,760 - 21,229,138

E2F6P3
Taille : 742 bases


Localisation : 21,268,161 - 21,268,903

POM121L8P
Taille : 1,280 bases


Localisation : 21,282,881 - 21,284,161

BCRP6
Taille : 3,826 bases


Localisation : 21,290,760 - 21,294,586

ENSG00000237407
Taille : 1,984 bases


Localisation : 21,312,920 - 21,314,904

PPP1R26P5
Taille : 3,663 bases


Localisation : 21,341,595 - 21,345,258

LINC01651
Taille : 3,504 bases


Localisation : 21,354,563 - 21,358,067

FAM246A
Taille : 698 bases


Localisation : 21,360,601 - 21,361,299

ENSG00000226534
Taille : 1,881 bases


Localisation : 21,370,064 - 21,371,945

Metazoa_SRP
Taille : 319 bases


Localisation : 21,379,382 - 21,379,701

RN7SKP63
Taille : 300 bases


Localisation : 21,389,191 - 21,389,491

ENSG00000252020
Taille : 142 bases


Localisation : 21,389,796 - 21,389,938

Metazoa_SRP
Taille : 317 bases


Localisation : 21,396,273 - 21,396,590

Metazoa_SRP
Taille : 316 bases


Localisation : 21,463,963 - 21,464,279

TMEM191C
Taille : 4,846 bases


Localisation : 21,466,423 - 21,471,269

ENSG00000252143
Taille : 142 bases


Localisation : 21,544,897 - 21,545,039

RN7SKP221
Taille : 300 bases


Localisation : 21,545,344 - 21,545,644

Metazoa_SRP
Taille : 319 bases


Localisation : 21,555,138 - 21,555,457

CCDC116
Taille : 4,613 bases

pLI : 0 LOEUF : 1.24 sHet : 0.057 pHaplo : 0.11 pTriplo : 0.26
Localisation : 21,632,716 - 21,637,329

ENSG00000273342
Taille : 440 bases


Localisation : 21,640,844 - 21,641,284

MIR301B
Taille : 77 bases


Localisation : 21,652,981 - 21,653,058

ENSG00000284630
Taille : 3,210 bases


Localisation : 21,657,811 - 21,661,021

ENSG00000284651
Taille : 53 bases


Localisation : 21,661,242 - 21,661,295

ENSG00000284654
Taille : 117 bases


Localisation : 21,661,476 - 21,661,593

ENSG00000284621
Taille : 70 bases


Localisation : 21,661,859 - 21,661,929

ENSG00000272954
Taille : 429 bases


Localisation : 21,661,934 - 21,662,363

ENSG00000286365
Taille : 1,252 bases


Localisation : 21,712,761 - 21,714,013

RN7SL280P
Taille : 287 bases


Localisation : 21,722,895 - 21,723,182

ENSG00000286127
Taille : 6,660 bases


Localisation : 21,737,448 - 21,744,108

RNA5SP493
Taille : 90 bases


Localisation : 21,792,434 - 21,792,524

78 ClinGen CNV chevauché(s) (>=70% seulement)

0 Bénin CNV    0 Probablement bénin CNV    5 Incertain CNV    0 Probablement pathogénique CNV    73 Pathogénique CNV

#1 Pathogenic (g.)
Localisation : 18,802,708 - 21,343,709 | Taille : 2,541,001 bases

Score : 1
Phénotype : Schizophrenia

Moyenne des chevauchements : 90 %


#2 Pathogenic (g.)
Localisation : 18,846,938 - 21,221,413 | Taille : 2,374,475 bases

Score : 1
Phénotype : Schizophrenia

Moyenne des chevauchements : 88 %


#3 Pathogenic (g.)
Localisation : 18,880,918 - 21,123,588 | Taille : 2,242,670 bases

Score : 1
Phénotype : Schizophrenia

Moyenne des chevauchements : 87 %


#4 Pathogenic (g.)
Localisation : 18,832,908 - 21,123,588 | Taille : 2,290,680 bases

Score : 1
Phénotype : Schizophrenia

Moyenne des chevauchements : 86 %


#5 Pathogenic (nssv3396760)
Localisation : 18,339,129 - 21,450,597 | Taille : 3,111,468 bases

Score : 0

Moyenne des chevauchements : 85 %


#6 Pathogenic (nssv580005)
Localisation : 18,339,129 - 21,454,720 | Taille : 3,115,591 bases

Score : 1

Moyenne des chevauchements : 85 %


#7 Pathogenic (nssv579989)
Localisation : 18,339,129 - 21,454,720 | Taille : 3,115,591 bases

Score : 1

Moyenne des chevauchements : 85 %


#8 Pathogenic (nssv582145)
Localisation : 18,339,129 - 21,441,926 | Taille : 3,102,797 bases

Score : 0

Moyenne des chevauchements : 85 %


#9 Pathogenic (Single allele)
Localisation : 18,948,675 - 21,110,520 | Taille : 2,161,845 bases

Score : 1
Phénotype : 12 conditions, Velocardiofacial syndrome

Moyenne des chevauchements : 85 %


#10 Pathogenic (Single allele)
Localisation : 18,948,676 - 21,110,520 | Taille : 2,161,844 bases

Score : 1
Phénotype : Velocardiofacial syndrome

Moyenne des chevauchements : 85 %


#11 Pathogenic (Single allele)
Localisation : 18,985,738 - 21,081,116 | Taille : 2,095,378 bases

Score : 1
Phénotype : Chromosome 22q11.2 microduplication syndrome

Moyenne des chevauchements : 84 %


#12 Pathogenic (nssv582649)
Localisation : 18,178,956 - 21,454,720 | Taille : 3,275,764 bases

Score : 0

Moyenne des chevauchements : 83 %


#13 Pathogenic (nssv582358)
Localisation : 18,339,129 - 21,307,146 | Taille : 2,968,017 bases

Score : 0

Moyenne des chevauchements : 82 %


#14 Pathogenic (g.)
Localisation : 18,159,878 - 21,362,822 | Taille : 3,202,944 bases

Score : 1
Phénotype : Schizophrenia

Moyenne des chevauchements : 81 %


#15 Pathogenic (g.)
Localisation : 18,159,878 - 21,387,988 | Taille : 3,228,110 bases

Score : 1
Phénotype : Schizophrenia

Moyenne des chevauchements : 81 %


#16 Pathogenic (nssv580061)
Localisation : 18,389,244 - 21,207,225 | Taille : 2,817,981 bases

Score : 1

Moyenne des chevauchements : 81 %


#17 Pathogenic (nssv580035)
Localisation : 18,339,129 - 21,207,225 | Taille : 2,868,096 bases

Score : 2

Moyenne des chevauchements : 80 %


#18 Pathogenic (nssv575800)
Localisation : 18,339,129 - 21,207,225 | Taille : 2,868,096 bases

Score : 0

Moyenne des chevauchements : 80 %


#19 Pathogenic (nssv576777)
Localisation : 18,339,129 - 21,207,225 | Taille : 2,868,096 bases

Score : 0

Moyenne des chevauchements : 80 %


#20 Uncertain significance (nssv582529)
Localisation : 18,389,244 - 21,151,128 | Taille : 2,761,884 bases

Score : 0

Moyenne des chevauchements : 80 %


#21 Pathogenic (g.)
Localisation : 18,163,925 - 21,277,123 | Taille : 3,113,198 bases

Score : 1
Phénotype : Schizophrenia

Moyenne des chevauchements : 79 %


#22 Pathogenic (nssv580030)
Localisation : 18,339,129 - 21,151,269 | Taille : 2,812,140 bases

Score : 1

Moyenne des chevauchements : 79 %


#23 Pathogenic (nssv575807)
Localisation : 18,339,129 - 21,151,128 | Taille : 2,811,999 bases

Score : 0

Moyenne des chevauchements : 79 %


#24 Pathogenic (nssv580058)
Localisation : 18,339,129 - 21,151,128 | Taille : 2,811,999 bases

Score : 1

Moyenne des chevauchements : 79 %


#25 Pathogenic (nssv583020)
Localisation : 18,339,129 - 21,151,128 | Taille : 2,811,999 bases

Score : 0

Moyenne des chevauchements : 79 %


#26 Pathogenic (nssv575714)
Localisation : 18,339,129 - 21,151,128 | Taille : 2,811,999 bases

Score : 0

Moyenne des chevauchements : 79 %


#27 Pathogenic (nssv580039)
Localisation : 18,339,129 - 21,151,128 | Taille : 2,811,999 bases

Score : 2

Moyenne des chevauchements : 79 %


#28 Pathogenic (nssv579983)
Localisation : 18,339,129 - 21,151,128 | Taille : 2,811,999 bases

Score : 1

Moyenne des chevauchements : 79 %


#29 Uncertain significance (nssv582964)
Localisation : 18,339,129 - 21,151,128 | Taille : 2,811,999 bases

Score : 0

Moyenne des chevauchements : 79 %


#30 Uncertain significance (nssv1603648)
Localisation : 18,389,244 - 21,109,830 | Taille : 2,720,586 bases

Score : 0

Moyenne des chevauchements : 79 %


#31 Pathogenic (nssv579970)
Localisation : 18,178,956 - 21,207,225 | Taille : 3,028,269 bases

Score : 1

Moyenne des chevauchements : 78 %


#32 Pathogenic (nssv576771)
Localisation : 18,178,956 - 21,207,225 | Taille : 3,028,269 bases

Score : 0

Moyenne des chevauchements : 78 %


#33 Pathogenic (nssv579976)
Localisation : 18,188,861 - 21,182,552 | Taille : 2,993,691 bases

Score : 1

Moyenne des chevauchements : 78 %


#34 Pathogenic (nssv580038)
Localisation : 18,339,129 - 21,086,225 | Taille : 2,747,096 bases

Score : 2

Moyenne des chevauchements : 78 %


#35 Pathogenic (nssv579982)
Localisation : 18,339,129 - 21,086,225 | Taille : 2,747,096 bases

Score : 1

Moyenne des chevauchements : 78 %


#36 Pathogenic (nssv583242)
Localisation : 18,339,129 - 21,086,225 | Taille : 2,747,096 bases

Score : 0

Moyenne des chevauchements : 78 %


#37 Pathogenic (nssv579998)
Localisation : 18,339,129 - 21,086,225 | Taille : 2,747,096 bases

Score : 1

Moyenne des chevauchements : 78 %


#38 Pathogenic (nssv582962)
Localisation : 18,339,129 - 21,086,225 | Taille : 2,747,096 bases

Score : 0

Moyenne des chevauchements : 78 %


#39 Pathogenic (nssv580057)
Localisation : 18,339,129 - 21,101,267 | Taille : 2,762,138 bases

Score : 1

Moyenne des chevauchements : 78 %


#40 Pathogenic (nssv580055)
Localisation : 18,339,129 - 21,101,267 | Taille : 2,762,138 bases

Score : 1

Moyenne des chevauchements : 78 %


#41 Pathogenic (nssv580054)
Localisation : 18,339,129 - 21,101,267 | Taille : 2,762,138 bases

Score : 1

Moyenne des chevauchements : 78 %


#42 Pathogenic (nssv1610243)
Localisation : 18,339,129 - 21,101,210 | Taille : 2,762,081 bases

Score : 0

Moyenne des chevauchements : 78 %


#43 Pathogenic (nssv585256)
Localisation : 18,339,129 - 21,107,463 | Taille : 2,768,334 bases

Score : 0

Moyenne des chevauchements : 78 %


#44 Pathogenic (nssv1610455)
Localisation : 18,339,129 - 21,111,370 | Taille : 2,772,241 bases

Score : 0

Moyenne des chevauchements : 78 %


#45 Pathogenic (nssv3394942)
Localisation : 18,339,129 - 21,111,370 | Taille : 2,772,241 bases

Score : 0

Moyenne des chevauchements : 78 %


#46 Pathogenic (nssv3395024)
Localisation : 18,339,129 - 21,111,370 | Taille : 2,772,241 bases

Score : 0

Moyenne des chevauchements : 78 %


#47 Pathogenic (nssv3395105)
Localisation : 18,339,129 - 21,111,370 | Taille : 2,772,241 bases

Score : 0

Moyenne des chevauchements : 78 %


#48 Pathogenic (nssv582937)
Localisation : 18,339,129 - 21,086,225 | Taille : 2,747,096 bases

Score : 0

Moyenne des chevauchements : 78 %


#49 Pathogenic (nssv706740)
Localisation : 18,339,129 - 21,086,226 | Taille : 2,747,097 bases

Score : 0

Moyenne des chevauchements : 78 %


#50 Pathogenic (nssv1495101)
Localisation : 18,339,129 - 21,107,522 | Taille : 2,768,393 bases

Score : 0

Moyenne des chevauchements : 78 %


#51 Pathogenic (nssv580059)
Localisation : 18,339,129 - 21,107,522 | Taille : 2,768,393 bases

Score : 1

Moyenne des chevauchements : 78 %


#52 Pathogenic (nssv579992)
Localisation : 18,339,129 - 21,107,522 | Taille : 2,768,393 bases

Score : 1

Moyenne des chevauchements : 78 %


#53 Pathogenic (nssv1610376)
Localisation : 18,339,129 - 21,109,830 | Taille : 2,770,701 bases

Score : 0

Moyenne des chevauchements : 78 %


#54 Pathogenic (nssv3396467)
Localisation : 18,339,129 - 21,109,830 | Taille : 2,770,701 bases

Score : 0

Moyenne des chevauchements : 78 %


#55 Pathogenic (nssv1495087)
Localisation : 18,339,129 - 21,109,830 | Taille : 2,770,701 bases

Score : 0

Moyenne des chevauchements : 78 %


#56 Pathogenic (nssv3396952)
Localisation : 18,339,129 - 21,111,373 | Taille : 2,772,244 bases

Score : 0

Moyenne des chevauchements : 78 %


#57 Pathogenic (nssv3396779)
Localisation : 18,339,129 - 21,111,373 | Taille : 2,772,244 bases

Score : 0

Moyenne des chevauchements : 78 %


#58 Pathogenic (nssv3397352)
Localisation : 18,339,129 - 21,111,373 | Taille : 2,772,244 bases

Score : 0

Moyenne des chevauchements : 78 %


#59 Pathogenic (nssv3397302)
Localisation : 18,339,129 - 21,111,373 | Taille : 2,772,244 bases

Score : 0

Moyenne des chevauchements : 78 %


#60 Uncertain significance (nssv706238)
Localisation : 18,389,244 - 21,086,225 | Taille : 2,696,981 bases

Score : 0

Moyenne des chevauchements : 78 %


#61 Pathogenic (nssv1603659)
Localisation : 18,178,931 - 21,151,156 | Taille : 2,972,225 bases

Score : 0

Moyenne des chevauchements : 77 %


#62 Pathogenic (nssv706492)
Localisation : 18,178,956 - 21,151,128 | Taille : 2,972,172 bases

Score : 0

Moyenne des chevauchements : 77 %


#63 Pathogenic (nssv579995)
Localisation : 18,339,129 - 21,040,441 | Taille : 2,701,312 bases

Score : 1

Moyenne des chevauchements : 77 %


#64 Pathogenic (nssv579958)
Localisation : 18,145,251 - 21,151,128 | Taille : 3,005,877 bases

Score : 1

Moyenne des chevauchements : 76 %


#65 Pathogenic (nssv706340)
Localisation : 18,145,251 - 21,151,128 | Taille : 3,005,877 bases

Score : 0

Moyenne des chevauchements : 76 %


#66 Pathogenic (nssv3395205)
Localisation : 18,161,473 - 21,111,373 | Taille : 2,949,900 bases

Score : 0

Moyenne des chevauchements : 76 %


#67 Pathogenic (nssv3395292)
Localisation : 18,166,088 - 21,111,373 | Taille : 2,945,285 bases

Score : 0

Moyenne des chevauchements : 76 %


#68 Pathogenic (nssv579959)
Localisation : 18,167,907 - 21,101,267 | Taille : 2,933,360 bases

Score : 1

Moyenne des chevauchements : 76 %


#69 Pathogenic (nssv579968)
Localisation : 18,177,785 - 21,101,267 | Taille : 2,923,482 bases

Score : 1

Moyenne des chevauchements : 76 %


#70 Pathogenic (nssv1415377)
Localisation : 18,178,956 - 21,107,522 | Taille : 2,928,566 bases

Score : 0

Moyenne des chevauchements : 76 %


#71 Pathogenic (nssv1602233)
Localisation : 18,178,956 - 21,109,830 | Taille : 2,930,874 bases

Score : 0

Moyenne des chevauchements : 76 %


#72 Pathogenic (nssv582203)
Localisation : 18,339,129 - 21,028,664 | Taille : 2,689,535 bases

Score : 0

Moyenne des chevauchements : 76 %


#73 Pathogenic (nssv1495089)
Localisation : 18,145,251 - 21,109,830 | Taille : 2,964,579 bases

Score : 0

Moyenne des chevauchements : 75 %


#74 Pathogenic (nssv584206)
Localisation : 18,145,379 - 21,086,226 | Taille : 2,940,847 bases

Score : 0

Moyenne des chevauchements : 75 %


#75 Pathogenic (nssv579973)
Localisation : 18,178,956 - 21,086,225 | Taille : 2,907,269 bases

Score : 2

Moyenne des chevauchements : 75 %


#76 Pathogenic (nssv583171)
Localisation : 18,178,956 - 21,086,225 | Taille : 2,907,269 bases

Score : 0

Moyenne des chevauchements : 75 %


#77 Uncertain significance (nssv3396924)
Localisation : 18,339,129 - 20,980,781 | Taille : 2,641,652 bases

Score : 0

Moyenne des chevauchements : 75 %


#78 Pathogenic (nssv1608856)
Localisation : 18,339,129 - 23,480,799 | Taille : 5,141,670 bases

Score : 0

Moyenne des chevauchements : 72 %



247 Decipher CNV chevauché(s) (>=70% seulement)

0 Bénin CNV    118 Inconnu CNV    11 Incertain CNV    118 Pathogénique CNV

#1 : unknown
Localisation : 18,894,834 - 21,798,755 | Taille : 2,903,921 bases

Identifiant patient : 280518
Genre : Inconnu
Phénotype : Global developmental delay

Moyenne des chevauchements : 100 %


#2 : unknown
Localisation : 18,896,971 - 21,798,755 | Taille : 2,901,784 bases

Identifiant patient : 258265
Genre : Inconnu
Phénotype : Cryptorchidism, Hypospadias, High palate, Macrocephaly, Posteriorly rotated ears, Low\-set ears, Prominent nasal bridge, Anteverted nares, Blepharophimosis, Abnormal heart morphology

Moyenne des chevauchements : 100 %


#3 : pathogenic
Localisation : 18,916,841 - 21,800,797 | Taille : 2,883,956 bases

Identifiant patient : 308797
Genre : Inconnu

Moyenne des chevauchements : 100 %


#4 : pathogenic
Localisation : 18,916,841 - 21,800,797 | Taille : 2,883,956 bases

Identifiant patient : 315022
Genre : Inconnu
Phénotype : Ventricular septal defect, Delayed gross motor development, Mild short stature, Ventricular septal defect, Delayed gross motor development, Mild short stature

Moyenne des chevauchements : 100 %


#5 : unknown
Localisation : 18,916,841 - 21,798,907 | Taille : 2,882,066 bases

Identifiant patient : 301241
Genre : Inconnu

Moyenne des chevauchements : 100 %


#6 : pathogenic
Localisation : 18,916,841 - 21,798,907 | Taille : 2,882,066 bases

Identifiant patient : 327807
Genre : Inconnu

Moyenne des chevauchements : 100 %


#7 : pathogenic
Localisation : 18,916,841 - 21,798,907 | Taille : 2,882,066 bases

Identifiant patient : 330955
Genre : Inconnu
Phénotype : Global developmental delay, Abnormal facial shape, Basal ganglia calcification

Moyenne des chevauchements : 100 %


#8 : pathogenic
Localisation : 18,916,841 - 21,798,907 | Taille : 2,882,066 bases

Identifiant patient : 356289
Genre : Inconnu
Phénotype : Cleft palate, Abnormality of the pinna, Bulbous nose, Tapered finger, Intellectual disability, Failure to thrive, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve, Abnormal facial shape, Asymmetric crying face, Interrupted aortic arch, Short palpebral fissure, Cleft palate, Abnormality of the pinna, Bulbous nose, Tapered finger, Intellectual disability, Failure to thrive, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve, Abnormal facial shape, Asymmetric crying face, Interrupted aortic arch, Short palpebral fissure

Moyenne des chevauchements : 100 %


#9 : pathogenic
Localisation : 18,919,475 - 21,798,907 | Taille : 2,879,432 bases

Identifiant patient : 332755
Genre : Inconnu

Moyenne des chevauchements : 100 %


#10 : pathogenic
Localisation : 18,919,941 - 21,798,755 | Taille : 2,878,814 bases

Identifiant patient : 280739
Genre : Inconnu
Phénotype : Global developmental delay

Moyenne des chevauchements : 100 %


#11 : pathogenic
Localisation : 18,919,941 - 21,798,755 | Taille : 2,878,814 bases

Identifiant patient : 292126
Genre : Inconnu
Phénotype : Microretrognathia, Delayed speech and language development, Global developmental delay, Joint laxity, Failure to thrive, Laryngotracheomalacia, Feeding difficulties

Moyenne des chevauchements : 100 %


#12 : unknown
Localisation : 18,919,941 - 21,801,661 | Taille : 2,881,720 bases

Identifiant patient : 260264
Genre : Inconnu

Moyenne des chevauchements : 100 %


#13 : pathogenic
Localisation : 18,919,941 - 21,801,661 | Taille : 2,881,720 bases

Identifiant patient : 287304
Genre : Inconnu
Phénotype : Global developmental delay, Conotruncal defect, Anal atresia, Postnatal growth retardation, Aplasia\/Hypoplasia of the thymus

Moyenne des chevauchements : 100 %


#14 : pathogenic
Localisation : 18,933,882 - 21,825,079 | Taille : 2,891,197 bases

Identifiant patient : 400971
Genre : Inconnu
Phénotype : Hypertelorism, Low\-set ears, Prominent nasal bridge, Long eyelashes, Upslanted palpebral fissure, Periorbital fullness, Single transverse palmar crease, Tapered finger, Short nail, Short stature, Microtia, Wide nasal base, Finger clinodactyly

Moyenne des chevauchements : 99 %


#15 : unknown
Localisation : 18,896,971 - 21,926,261 | Taille : 3,029,290 bases

Identifiant patient : 276506
Genre : Inconnu

Moyenne des chevauchements : 98 %


#16 : pathogenic
Localisation : 19,004,734 - 21,798,907 | Taille : 2,794,173 bases

Identifiant patient : 332210
Genre : Inconnu
Phénotype : Delayed speech and language development, Hypotonia, Global developmental delay, Delayed gross motor development, Congenital muscular torticollis, Delayed fine motor development, Fetal pyelectasis

Moyenne des chevauchements : 98 %


#17 : unknown
Localisation : 19,023,823 - 21,798,755 | Taille : 2,774,932 bases

Identifiant patient : 1640
Genre : Inconnu
Phénotype : Cleft palate, Mandibular prognathia, Abnormality of the nasal septum, Coloboma, Hypotelorism, Iris coloboma, Sclerocornea, Delayed speech and language development, Postaxial hand polydactyly, Intellectual disability, Ataxia, Ventricular septal defect, Postaxial foot polydactyly, Facial cleft, Proportionate short stature

Moyenne des chevauchements : 98 %


#18 : unknown
Localisation : 18,847,960 - 21,661,435 | Taille : 2,813,475 bases

Identifiant patient : 257931
Genre : Inconnu
Phénotype : Ventricular septal defect, Mild global developmental delay

Moyenne des chevauchements : 97 %


#19 : pathogenic
Localisation : 18,933,882 - 21,676,849 | Taille : 2,742,967 bases

Identifiant patient : 400935
Genre : Inconnu
Phénotype : Abnormality of the pinna, Strabismus, Postaxial hand polydactyly, Obesity, Pes planus, Frontal bossing, EEG abnormality, Recurrent infections, Inverted nipples, Pain insensitivity, Finger clinodactyly

Moyenne des chevauchements : 97 %


#20 : pathogenic
Localisation : 18,933,882 - 21,676,849 | Taille : 2,742,967 bases

Identifiant patient : 400938
Genre : Inconnu
Phénotype : Sparse and thin eyebrow, Hypotelorism, Premature birth, Short stature, Sparse hair

Moyenne des chevauchements : 97 %


#21 : pathogenic
Localisation : 18,626,107 - 21,798,907 | Taille : 3,172,800 bases

Identifiant patient : 421079
Genre : Inconnu
Phénotype : Microcephaly, Hypertelorism, Micrognathia, Abnormality of earlobe, Global developmental delay, Microcephaly, Hypertelorism, Micrognathia, Abnormality of earlobe, Global developmental delay, Microcephaly, Hypertelorism, Micrognathia, Abnormality of earlobe, Global developmental delay

Moyenne des chevauchements : 96 %


#22 : unknown
Localisation : 18,641,467 - 21,798,705 | Taille : 3,157,238 bases

Identifiant patient : 264397
Genre : Inconnu

Moyenne des chevauchements : 96 %


#23 : pathogenic
Localisation : 18,644,789 - 21,798,907 | Taille : 3,154,118 bases

Identifiant patient : 282275
Genre : Inconnu
Phénotype : High palate, Microcephaly, Long face, Micrognathia, Carious teeth, Hyperactivity, Jaundice, Seizure, Intellectual disability, mild, Dysarthria, Global developmental delay, Intrauterine growth retardation, Nasal speech, Ventricular septal defect, Patent ductus arteriosus, Hyperbilirubinemia, Excessive salivation, Speech articulation difficulties, Vascular ring, Meconium stained amniotic fluid, 5\-minute APGAR score of 6, 1\-minute APGAR score of 2

Moyenne des chevauchements : 96 %


#24 : pathogenic
Localisation : 18,644,789 - 21,800,797 | Taille : 3,156,008 bases

Identifiant patient : 332216
Genre : Inconnu
Phénotype : Hypocalcemia

Moyenne des chevauchements : 96 %


#25 : pathogenic
Localisation : 18,648,865 - 21,800,797 | Taille : 3,151,932 bases

Identifiant patient : 299771
Genre : Inconnu

Moyenne des chevauchements : 96 %


#26 : unknown
Localisation : 18,651,613 - 21,798,755 | Taille : 3,147,142 bases

Identifiant patient : 271451
Genre : Inconnu

Moyenne des chevauchements : 96 %


#27 : unknown
Localisation : 18,661,747 - 21,808,979 | Taille : 3,147,232 bases

Identifiant patient : 273941
Genre : Inconnu

Moyenne des chevauchements : 96 %


#28 : unknown
Localisation : 18,661,747 - 21,808,979 | Taille : 3,147,232 bases

Identifiant patient : 282271
Genre : Inconnu

Moyenne des chevauchements : 96 %


#29 : pathogenic
Localisation : 18,661,747 - 21,808,979 | Taille : 3,147,232 bases

Identifiant patient : 284518
Genre : Inconnu

Moyenne des chevauchements : 96 %


#30 : pathogenic
Localisation : 18,729,743 - 21,705,113 | Taille : 2,975,370 bases

Identifiant patient : 384171
Genre : Inconnu
Phénotype : Abnormal social behavior, Fragile teeth, Overweight, Abnormal social behavior, Fragile teeth, Overweight

Moyenne des chevauchements : 96 %


#31 : pathogenic
Localisation : 18,661,698 - 21,722,313 | Taille : 3,060,615 bases

Identifiant patient : 331184
Genre : Inconnu
Phénotype : Abnormality of the face, Low\-set ears, Asymmetry of the mouth, Abnormality of cardiovascular system morphology

Moyenne des chevauchements : 95 %


#32 : pathogenic
Localisation : 18,890,161 - 21,540,347 | Taille : 2,650,186 bases

Identifiant patient : 288045
Genre : Inconnu
Phénotype : Plagiocephaly, Ventricular septal defect, Frontal bossing, Subdural hemorrhage

Moyenne des chevauchements : 95 %


#33 : unknown
Localisation : 18,894,634 - 21,505,558 | Taille : 2,610,924 bases

Identifiant patient : 265995
Genre : Inconnu
Phénotype : Stereotypy, Obesity

Moyenne des chevauchements : 95 %


#34 : unknown
Localisation : 18,894,634 - 21,505,558 | Taille : 2,610,924 bases

Identifiant patient : 280514
Genre : Inconnu
Phénotype : Global developmental delay

Moyenne des chevauchements : 95 %


#35 : unknown
Localisation : 18,894,834 - 21,505,417 | Taille : 2,610,583 bases

Identifiant patient : 280486
Genre : Inconnu
Phénotype : Global developmental delay

Moyenne des chevauchements : 95 %


#36 : pathogenic
Localisation : 18,894,834 - 21,505,417 | Taille : 2,610,583 bases

Identifiant patient : 294634
Genre : Inconnu
Phénotype : Wide mouth, Thick lower lip vermilion, Mandibular prognathia, Bulbous nose, Short neck, Broad neck, Dental malocclusion, Intellectual disability, Contracture of the proximal interphalangeal joint of the 5th finger

Moyenne des chevauchements : 95 %


#37 : pathogenic
Localisation : 18,894,834 - 21,505,417 | Taille : 2,610,583 bases

Identifiant patient : 404125
Genre : Inconnu

Moyenne des chevauchements : 95 %


#38 : unknown
Localisation : 18,894,834 - 21,505,417 | Taille : 2,610,583 bases

Identifiant patient : 250908
Genre : Inconnu

Moyenne des chevauchements : 95 %


#39 : pathogenic
Localisation : 18,894,834 - 21,505,417 | Taille : 2,610,583 bases

Identifiant patient : 366775
Genre : Inconnu
Phénotype : Ptosis, Delayed speech and language development, Global developmental delay, Brain atrophy

Moyenne des chevauchements : 95 %


#40 : unknown
Localisation : 18,894,863 - 21,505,387 | Taille : 2,610,524 bases

Identifiant patient : 265315
Genre : Inconnu

Moyenne des chevauchements : 95 %


#41 : unknown
Localisation : 18,894,863 - 21,505,387 | Taille : 2,610,524 bases

Identifiant patient : 267255
Genre : Inconnu

Moyenne des chevauchements : 95 %


#42 : unknown
Localisation : 18,894,863 - 21,505,387 | Taille : 2,610,524 bases

Identifiant patient : 277688
Genre : Inconnu

Moyenne des chevauchements : 95 %


#43 : unknown
Localisation : 18,894,864 - 21,505,388 | Taille : 2,610,524 bases

Identifiant patient : 285366
Genre : Inconnu

Moyenne des chevauchements : 95 %


#44 : unknown
Localisation : 18,894,864 - 21,505,388 | Taille : 2,610,524 bases

Identifiant patient : 293644
Genre : Inconnu
Phénotype : Retrognathia, Low\-set, posteriorly rotated ears, Overfolded helix, Laryngotracheomalacia, Mild intrauterine growth retardation, Perimembranous ventricular septal defect, Cognitive impairment, Retrognathia, Low\-set, posteriorly rotated ears, Overfolded helix, Laryngotracheomalacia, Mild intrauterine growth retardation, Perimembranous ventricular septal defect, Cognitive impairment

Moyenne des chevauchements : 95 %


#45 : pathogenic
Localisation : 18,661,698 - 21,661,435 | Taille : 2,999,737 bases

Identifiant patient : 287971
Genre : Inconnu
Phénotype : Hirsutism, Triphalangeal thumb, Abnormal sacrum morphology

Moyenne des chevauchements : 94 %


#46 : pathogenic
Localisation : 18,661,698 - 21,661,435 | Taille : 2,999,737 bases

Identifiant patient : 331010
Genre : Inconnu
Phénotype : Growth abnormality

Moyenne des chevauchements : 94 %


#47 : pathogenic
Localisation : 18,661,698 - 21,661,435 | Taille : 2,999,737 bases

Identifiant patient : 331294
Genre : Inconnu
Phénotype : Abnormal ventricular septum morphology, Abnormal aortic arch morphology

Moyenne des chevauchements : 94 %


#48 : pathogenic
Localisation : 18,661,698 - 21,661,435 | Taille : 2,999,737 bases

Identifiant patient : 331317
Genre : Inconnu
Phénotype : Generalized hypotonia, Premature birth, Generalized hypotonia, Premature birth

Moyenne des chevauchements : 94 %


#49 : pathogenic
Localisation : 18,661,698 - 21,661,435 | Taille : 2,999,737 bases

Identifiant patient : 331351
Genre : Inconnu
Phénotype : Abnormality of cardiovascular system morphology, Abnormality of cardiovascular system morphology

Moyenne des chevauchements : 94 %


#50 : unknown
Localisation : 18,661,723 - 21,704,632 | Taille : 3,042,909 bases

Identifiant patient : 293850
Genre : Inconnu

Moyenne des chevauchements : 94 %


#51 : pathogenic
Localisation : 18,847,960 - 21,499,494 | Taille : 2,651,534 bases

Identifiant patient : 331301
Genre : Inconnu
Phénotype : Polyhydramnios, Abnormal aortic morphology

Moyenne des chevauchements : 94 %


#52 : pathogenic
Localisation : 18,876,604 - 21,499,494 | Taille : 2,622,890 bases

Identifiant patient : 289903
Genre : Inconnu
Phénotype : Congenital hypothyroidism, Unilateral deafness

Moyenne des chevauchements : 94 %


#53 : pathogenic
Localisation : 18,877,522 - 21,505,417 | Taille : 2,627,895 bases

Identifiant patient : 332406
Genre : Inconnu

Moyenne des chevauchements : 94 %


#54 : pathogenic
Localisation : 18,877,786 - 21,462,353 | Taille : 2,584,567 bases

Identifiant patient : 304086
Genre : Inconnu
Phénotype : Global developmental delay

Moyenne des chevauchements : 94 %


#55 : unknown
Localisation : 18,877,786 - 21,462,353 | Taille : 2,584,567 bases

Identifiant patient : 327576
Genre : Inconnu
Phénotype : Renal agenesis, Hypertelorism, Cupped ear, Hypotonia, Hiatus hernia, Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, Nasogastric tube feeding

Moyenne des chevauchements : 94 %


#56 : unknown
Localisation : 18,877,786 - 21,462,353 | Taille : 2,584,567 bases

Identifiant patient : 327630
Genre : Inconnu

Moyenne des chevauchements : 94 %


#57 : unknown
Localisation : 18,884,837 - 21,465,661 | Taille : 2,580,824 bases

Identifiant patient : 275295
Genre : Inconnu

Moyenne des chevauchements : 94 %


#58 : pathogenic
Localisation : 18,889,038 - 21,464,119 | Taille : 2,575,081 bases

Identifiant patient : 259106
Genre : Inconnu
Phénotype : High palate, Global developmental delay, Abnormal heart morphology, Fragile nails, Sparse scalp hair, Alopecia of scalp, Abnormality of limb bone morphology

Moyenne des chevauchements : 94 %


#59 : pathogenic
Localisation : 18,889,038 - 21,464,119 | Taille : 2,575,081 bases

Identifiant patient : 287518
Genre : Inconnu
Phénotype : Deeply set eye, Delayed speech and language development, Palmoplantar keratoderma, Talipes, Polymicrogyria, Generalized\-onset seizure, Hemiplegia, Sleep disturbance, Large earlobe, Severe global developmental delay

Moyenne des chevauchements : 94 %


#60 : unknown
Localisation : 18,889,038 - 21,479,979 | Taille : 2,590,941 bases

Identifiant patient : 266768
Genre : Inconnu
Phénotype : Submucous cleft hard palate, Bifid uvula, Upslanted palpebral fissure, Delayed speech and language development, Global developmental delay, Hyperconvex nail, Talipes, Abnormal cerebral cortex morphology, Facial palsy

Moyenne des chevauchements : 94 %


#61 : unknown
Localisation : 18,894,634 - 21,464,260 | Taille : 2,569,626 bases

Identifiant patient : 269045
Genre : Inconnu

Moyenne des chevauchements : 94 %


#62 : pathogenic
Localisation : 18,894,634 - 21,464,260 | Taille : 2,569,626 bases

Identifiant patient : 278276
Genre : Inconnu
Phénotype : Aggressive behavior, Stereotypy, Delayed speech and language development, Global developmental delay, Mild postnatal growth retardation, Repetitive compulsive behavior, Abnormal ventricular septum morphology

Moyenne des chevauchements : 94 %


#63 : uncertain
Localisation : 18,894,819 - 21,468,411 | Taille : 2,573,592 bases

Identifiant patient : 288246
Genre : Inconnu
Phénotype : Global developmental delay

Moyenne des chevauchements : 94 %


#64 : unknown
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 260279
Genre : Inconnu
Phénotype : Microcephaly, Epicanthus, Abnormal scapula morphology, Sagittal craniosynostosis, Abnormal digit morphology, Microcephaly, Epicanthus, Abnormal scapula morphology, Sagittal craniosynostosis, Abnormal digit morphology, Microcephaly, Epicanthus, Abnormal scapula morphology, Sagittal craniosynostosis, Abnormal digit morphology, Microcephaly, Epicanthus, Abnormal scapula morphology, Sagittal craniosynostosis, Abnormal digit morphology

Moyenne des chevauchements : 94 %


#65 : unknown
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 268048
Genre : Inconnu

Moyenne des chevauchements : 94 %


#66 : unknown
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 269041
Genre : Inconnu
Phénotype : Abnormality of the face, Autism

Moyenne des chevauchements : 94 %


#67 : unknown
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 271896
Genre : Inconnu
Phénotype : Autism, Intellectual disability, Obesity, Ventricular septal defect, Scoliosis

Moyenne des chevauchements : 94 %


#68 : unknown
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 276051
Genre : Inconnu

Moyenne des chevauchements : 94 %


#69 : pathogenic
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 292121
Genre : Inconnu
Phénotype : Wide mouth, Prominent nasal bridge, Deeply set eye, Retinal hemorrhage, Global developmental delay, Plagiocephaly, Failure to thrive, Intrauterine growth retardation, Downturned corners of mouth, Generalized bone demineralization, Infantile axial hypotonia, Prominent forehead, Feeding difficulties, Round ear

Moyenne des chevauchements : 94 %


#70 : unknown
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 324223
Genre : Inconnu

Moyenne des chevauchements : 94 %


#71 : pathogenic
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 391211
Genre : Inconnu

Moyenne des chevauchements : 94 %


#72 : pathogenic
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 409200
Genre : Inconnu

Moyenne des chevauchements : 94 %


#73 : pathogenic
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 324553
Genre : Inconnu
Phénotype : Microcephaly, Seizure, Gastroesophageal reflux

Moyenne des chevauchements : 94 %


#74 : pathogenic
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 340106
Genre : Inconnu
Phénotype : Velopharyngeal insufficiency, Strabismus, Intellectual disability, mild, Abnormal facial shape, Type II diabetes mellitus

Moyenne des chevauchements : 94 %


#75 : pathogenic
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 363853
Genre : Inconnu
Phénotype : Tetralogy of Fallot, Talipes equinovarus

Moyenne des chevauchements : 94 %


#76 : pathogenic
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 366857
Genre : Inconnu

Moyenne des chevauchements : 94 %


#77 : pathogenic
Localisation : 18,894,834 - 21,464,119 | Taille : 2,569,285 bases

Identifiant patient : 386027
Genre : Inconnu

Moyenne des chevauchements : 94 %


#78 : unknown
Localisation : 18,895,186 - 21,463,936 | Taille : 2,568,750 bases

Identifiant patient : 2213
Genre : Inconnu
Phénotype : Tetralogy of Fallot, Meningocele

Moyenne des chevauchements : 94 %


#79 : pathogenic
Localisation : 18,895,226 - 21,462,353 | Taille : 2,567,127 bases

Identifiant patient : 301139
Genre : Inconnu
Phénotype : Renal cyst, Cleft palate, Delayed speech and language development, Recurrent respiratory infections

Moyenne des chevauchements : 94 %


#80 : pathogenic
Localisation : 18,646,834 - 21,661,435 | Taille : 3,014,601 bases

Identifiant patient : 288268
Genre : Inconnu
Phénotype : Global developmental delay, Global developmental delay

Moyenne des chevauchements : 93 %


#81 : pathogenic
Localisation : 18,646,834 - 21,661,435 | Taille : 3,014,601 bases

Identifiant patient : 331247
Genre : Inconnu
Phénotype : Tetralogy of Fallot

Moyenne des chevauchements : 93 %


#82 : pathogenic
Localisation : 18,646,834 - 21,661,435 | Taille : 3,014,601 bases

Identifiant patient : 331570
Genre : Inconnu
Phénotype : Intellectual disability, Abnormal facial shape, Hypocalcemia

Moyenne des chevauchements : 93 %


#83 : pathogenic
Localisation : 18,706,021 - 21,561,491 | Taille : 2,855,470 bases

Identifiant patient : 308404
Genre : Inconnu

Moyenne des chevauchements : 93 %


#84 : unknown
Localisation : 18,765,108 - 21,540,317 | Taille : 2,775,209 bases

Identifiant patient : 282618
Genre : Inconnu

Moyenne des chevauchements : 93 %


#85 : unknown
Localisation : 18,844,631 - 21,462,353 | Taille : 2,617,722 bases

Identifiant patient : 327635
Genre : Inconnu

Moyenne des chevauchements : 93 %


#86 : pathogenic
Localisation : 18,844,631 - 21,462,353 | Taille : 2,617,722 bases

Identifiant patient : 360833
Genre : Inconnu
Phénotype : Double outlet right ventricle, Double outlet right ventricle, Double outlet right ventricle

Moyenne des chevauchements : 93 %


#87 : pathogenic
Localisation : 18,847,960 - 21,441,944 | Taille : 2,593,984 bases

Identifiant patient : 290047
Genre : Inconnu
Phénotype : Psychosis, Intellectual disability, Global developmental delay, Short stature

Moyenne des chevauchements : 93 %


#88 : pathogenic
Localisation : 18,875,829 - 21,441,944 | Taille : 2,566,115 bases

Identifiant patient : 289626
Genre : Inconnu
Phénotype : Behavioral abnormality, Intellectual disability

Moyenne des chevauchements : 93 %


#89 : pathogenic
Localisation : 18,875,829 - 21,441,944 | Taille : 2,566,115 bases

Identifiant patient : 289655
Genre : Inconnu
Phénotype : Behavioral abnormality, Intellectual disability, Behavioral abnormality, Intellectual disability

Moyenne des chevauchements : 93 %


#90 : pathogenic
Localisation : 18,875,829 - 21,441,944 | Taille : 2,566,115 bases

Identifiant patient : 331204
Genre : Inconnu
Phénotype : Abnormal heart morphology

Moyenne des chevauchements : 93 %


#91 : uncertain
Localisation : 18,876,604 - 21,441,944 | Taille : 2,565,340 bases

Identifiant patient : 290024
Genre : Inconnu
Phénotype : Behavioral abnormality, Intellectual disability

Moyenne des chevauchements : 93 %


#92 : pathogenic
Localisation : 18,876,604 - 21,441,944 | Taille : 2,565,340 bases

Identifiant patient : 331443
Genre : Inconnu
Phénotype : Intellectual disability

Moyenne des chevauchements : 93 %


#93 : pathogenic
Localisation : 18,890,161 - 21,441,944 | Taille : 2,551,783 bases

Identifiant patient : 288305
Genre : Inconnu
Phénotype : Micrognathia, Inlet ventricular septal defect

Moyenne des chevauchements : 93 %


#94 : pathogenic
Localisation : 18,890,161 - 21,441,944 | Taille : 2,551,783 bases

Identifiant patient : 289267
Genre : Inconnu
Phénotype : Intellectual disability, Hyperreflexia, Infantile axial hypotonia, Intellectual disability, Hyperreflexia, Infantile axial hypotonia

Moyenne des chevauchements : 93 %


#95 : pathogenic
Localisation : 18,890,161 - 21,441,944 | Taille : 2,551,783 bases

Identifiant patient : 290180
Genre : Inconnu
Phénotype : Global developmental delay, Global developmental delay

Moyenne des chevauchements : 93 %


#96 : pathogenic
Localisation : 18,890,161 - 21,441,944 | Taille : 2,551,783 bases

Identifiant patient : 331290
Genre : Inconnu
Phénotype : Bifid uvula, Global developmental delay

Moyenne des chevauchements : 93 %


#97 : pathogenic
Localisation : 18,890,161 - 21,441,944 | Taille : 2,551,783 bases

Identifiant patient : 331356
Genre : Inconnu

Moyenne des chevauchements : 93 %


#98 : pathogenic
Localisation : 18,890,161 - 21,441,944 | Taille : 2,551,783 bases

Identifiant patient : 331525
Genre : Inconnu
Phénotype : Micropenis, Intellectual disability

Moyenne des chevauchements : 93 %


#99 : uncertain
Localisation : 18,890,161 - 21,440,515 | Taille : 2,550,354 bases

Identifiant patient : 289563
Genre : Inconnu
Phénotype : Psychosis, Intellectual disability

Moyenne des chevauchements : 93 %


#100 : unknown
Localisation : 18,890,210 - 21,445,924 | Taille : 2,555,714 bases

Identifiant patient : 270691
Genre : Inconnu
Phénotype : Narrow mouth, Blepharophimosis, Proportionate short stature, Short stature

Moyenne des chevauchements : 93 %


#101 : pathogenic
Localisation : 18,893,860 - 21,414,945 | Taille : 2,521,085 bases

Identifiant patient : 294062
Genre : Inconnu
Phénotype : High palate, Microretrognathia, Myopia, Hallux valgus, Thoracic scoliosis

Moyenne des chevauchements : 93 %


#102 : unknown
Localisation : 18,894,619 - 21,440,656 | Taille : 2,546,037 bases

Identifiant patient : 263249
Genre : Inconnu
Phénotype : Abnormality of the face, Cognitive impairment

Moyenne des chevauchements : 93 %


#103 : uncertain
Localisation : 18,894,819 - 21,440,515 | Taille : 2,545,696 bases

Identifiant patient : 332658
Genre : Inconnu
Phénotype : Mild global developmental delay

Moyenne des chevauchements : 93 %


#104 : unknown
Localisation : 18,894,819 - 21,440,515 | Taille : 2,545,696 bases

Identifiant patient : 301550
Genre : Inconnu
Phénotype : Hypotelorism, Highly arched eyebrow, Rudimentary postaxial polydactyly of hands, Moderate global developmental delay

Moyenne des chevauchements : 93 %


#105 : unknown
Localisation : 18,894,863 - 21,440,484 | Taille : 2,545,621 bases

Identifiant patient : 268981
Genre : Inconnu

Moyenne des chevauchements : 93 %


#106 : unknown
Localisation : 18,894,863 - 21,440,484 | Taille : 2,545,621 bases

Identifiant patient : 271024
Genre : Inconnu

Moyenne des chevauchements : 93 %


#107 : pathogenic
Localisation : 18,894,863 - 21,440,484 | Taille : 2,545,621 bases

Identifiant patient : 293121
Genre : Inconnu

Moyenne des chevauchements : 93 %


#108 : pathogenic
Localisation : 18,894,863 - 21,440,484 | Taille : 2,545,621 bases

Identifiant patient : 294066
Genre : Inconnu

Moyenne des chevauchements : 93 %


#109 : pathogenic
Localisation : 18,910,247 - 21,409,634 | Taille : 2,499,387 bases

Identifiant patient : 303619
Genre : Inconnu
Phénotype : Microcephaly, Broad forehead, Global developmental delay, Rheumatoid arthritis, Ventricular septal defect, Abnormal facial shape, Clinodactyly of the 4th toe, Cerebral palsy

Moyenne des chevauchements : 93 %


#110 : unknown
Localisation : 18,914,688 - 21,461,788 | Taille : 2,547,100 bases

Identifiant patient : 293851
Genre : Inconnu

Moyenne des chevauchements : 93 %


#111 : unknown
Localisation : 18,919,741 - 21,440,655 | Taille : 2,520,914 bases

Identifiant patient : 250577
Genre : Inconnu
Phénotype : Hypertelorism, Abnormality of the pinna, Telecanthus, Crumpled ear, Thin ear helix

Moyenne des chevauchements : 93 %


#112 : unknown
Localisation : 18,919,741 - 21,440,655 | Taille : 2,520,914 bases

Identifiant patient : 262934
Genre : Inconnu
Phénotype : Coarse facial features, Secondary amenorrhea, Intellectual disability, Abnormal heart morphology, Abnormality of dental morphology

Moyenne des chevauchements : 93 %


#113 : unknown
Localisation : 18,919,881 - 21,440,574 | Taille : 2,520,693 bases

Identifiant patient : 275001
Genre : Inconnu
Phénotype : Hypertrophic cardiomyopathy, Anal atresia, Hemivertebrae

Moyenne des chevauchements : 93 %


#114 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 294233
Genre : Inconnu
Phénotype : Hearing impairment, Cognitive impairment

Moyenne des chevauchements : 93 %


#115 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 349735
Genre : Inconnu
Phénotype : Hypocalcemia

Moyenne des chevauchements : 93 %


#116 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 265254
Genre : Inconnu

Moyenne des chevauchements : 93 %


#117 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 354940
Genre : Inconnu

Moyenne des chevauchements : 93 %


#118 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 355003
Genre : Inconnu
Phénotype : Intellectual disability, Intellectual disability

Moyenne des chevauchements : 93 %


#119 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 359219
Genre : Inconnu
Phénotype : Intellectual disability

Moyenne des chevauchements : 93 %


#120 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 359236
Genre : Inconnu
Phénotype : Velopharyngeal insufficiency, Laryngeal web

Moyenne des chevauchements : 93 %


#121 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 366439
Genre : Inconnu

Moyenne des chevauchements : 93 %


#122 : uncertain
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 366562
Genre : Inconnu
Phénotype : Cardiomyopathy

Moyenne des chevauchements : 93 %


#123 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 394776
Genre : Inconnu

Moyenne des chevauchements : 93 %


#124 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 412399
Genre : Inconnu

Moyenne des chevauchements : 93 %


#125 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 265518
Genre : Inconnu

Moyenne des chevauchements : 93 %


#126 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 267014
Genre : Inconnu

Moyenne des chevauchements : 93 %


#127 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 267667
Genre : Inconnu

Moyenne des chevauchements : 93 %


#128 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 299976
Genre : Inconnu
Phénotype : Cognitive impairment

Moyenne des chevauchements : 93 %


#129 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 299978
Genre : Inconnu
Phénotype : Delayed speech and language development, Global developmental delay, Arachnoid cyst

Moyenne des chevauchements : 93 %


#130 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 300530
Genre : Inconnu
Phénotype : Cognitive impairment

Moyenne des chevauchements : 93 %


#131 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 300967
Genre : Inconnu
Phénotype : Global developmental delay

Moyenne des chevauchements : 93 %


#132 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 301143
Genre : Inconnu
Phénotype : Intellectual disability, Intellectual disability

Moyenne des chevauchements : 93 %


#133 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 304864
Genre : Inconnu
Phénotype : Hypotonia, Nasal speech, Cognitive impairment, Hypotonia, Nasal speech, Cognitive impairment

Moyenne des chevauchements : 93 %


#134 : uncertain
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 306933
Genre : Inconnu

Moyenne des chevauchements : 93 %


#135 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 350694
Genre : Inconnu

Moyenne des chevauchements : 93 %


#136 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 269935
Genre : Inconnu

Moyenne des chevauchements : 93 %


#137 : uncertain
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 306934
Genre : Inconnu

Moyenne des chevauchements : 93 %


#138 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 326501
Genre : Inconnu
Phénotype : Intellectual disability, Abnormality of the voice, Recurrent upper respiratory tract infections

Moyenne des chevauchements : 93 %


#139 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 326844
Genre : Inconnu
Phénotype : Cleft palate, Hypothyroidism, Obesity, Cognitive impairment, Cleft palate, Hypothyroidism, Obesity, Cognitive impairment

Moyenne des chevauchements : 93 %


#140 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 338676
Genre : Inconnu
Phénotype : Single umbilical artery, Polyhydramnios, Ventricular septal defect, Single umbilical artery, Polyhydramnios, Ventricular septal defect

Moyenne des chevauchements : 93 %


#141 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 339129
Genre : Inconnu
Phénotype : Cleft palate, Neonatal hypotonia, Intrauterine growth retardation

Moyenne des chevauchements : 93 %


#142 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 339283
Genre : Inconnu
Phénotype : Specific learning disability

Moyenne des chevauchements : 93 %


#143 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 339352
Genre : Inconnu
Phénotype : Language impairment

Moyenne des chevauchements : 93 %


#144 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 339849
Genre : Inconnu
Phénotype : Global developmental delay, Neonatal hypotonia

Moyenne des chevauchements : 93 %


#145 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 340051
Genre : Inconnu
Phénotype : Hypertelorism, Growth delay

Moyenne des chevauchements : 93 %


#146 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 340590
Genre : Inconnu
Phénotype : Specific learning disability

Moyenne des chevauchements : 93 %


#147 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 346743
Genre : Inconnu
Phénotype : Velopharyngeal insufficiency, Neonatal hypotonia

Moyenne des chevauchements : 93 %


#148 : uncertain
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 366621
Genre : Inconnu

Moyenne des chevauchements : 93 %


#149 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 262079
Genre : Inconnu

Moyenne des chevauchements : 93 %


#150 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 413831
Genre : Inconnu

Moyenne des chevauchements : 93 %


#151 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 269991
Genre : Inconnu

Moyenne des chevauchements : 93 %


#152 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 349448
Genre : Inconnu
Phénotype : Intellectual disability

Moyenne des chevauchements : 93 %


#153 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 275011
Genre : Inconnu
Phénotype : Vesicoureteral reflux, Narrow mouth, High palate, Intellectual disability, Nasal speech, Talipes equinovarus

Moyenne des chevauchements : 93 %


#154 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 275466
Genre : Inconnu
Phénotype : Narrow mouth, Intellectual disability, mild, Microtia

Moyenne des chevauchements : 93 %


#155 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 276092
Genre : Inconnu
Phénotype : Microcephaly, Talipes equinovarus, Moderate global developmental delay, Rectal fistula

Moyenne des chevauchements : 93 %


#156 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 280548
Genre : Inconnu
Phénotype : Plagiocephaly, Intrauterine growth retardation, Mild global developmental delay

Moyenne des chevauchements : 93 %


#157 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 280849
Genre : Inconnu
Phénotype : Intellectual disability, moderate

Moyenne des chevauchements : 93 %


#158 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 286709
Genre : Inconnu
Phénotype : Pachygyria, Intellectual disability, moderate, Pachygyria, Intellectual disability, moderate

Moyenne des chevauchements : 93 %


#159 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 270971
Genre : Inconnu

Moyenne des chevauchements : 93 %


#160 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 273521
Genre : Inconnu
Phénotype : Renal agenesis, Postaxial hand polydactyly

Moyenne des chevauchements : 93 %


#161 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 263156
Genre : Inconnu

Moyenne des chevauchements : 93 %


#162 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 263159
Genre : Inconnu

Moyenne des chevauchements : 93 %


#163 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 287583
Genre : Inconnu
Phénotype : Behavioral abnormality, Absent speech

Moyenne des chevauchements : 93 %


#164 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 293479
Genre : Inconnu
Phénotype : Delayed speech and language development

Moyenne des chevauchements : 93 %


#165 : uncertain
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 306948
Genre : Inconnu

Moyenne des chevauchements : 93 %


#166 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 306999
Genre : Inconnu

Moyenne des chevauchements : 93 %


#167 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 307482
Genre : Inconnu
Phénotype : Global developmental delay

Moyenne des chevauchements : 93 %


#168 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 307490
Genre : Inconnu
Phénotype : Hypocalcemia, Cognitive impairment

Moyenne des chevauchements : 93 %


#169 : unknown
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 308537
Genre : Inconnu

Moyenne des chevauchements : 93 %


#170 : uncertain
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 323732
Genre : Inconnu
Phénotype : Atrial septal defect, HP:0011398

Moyenne des chevauchements : 93 %


#171 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 367139
Genre : Inconnu
Phénotype : Polyhydramnios, Abnormal facial shape, Hypocalcemia, Polyhydramnios, Abnormal facial shape, Hypocalcemia

Moyenne des chevauchements : 93 %


#172 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 351597
Genre : Inconnu

Moyenne des chevauchements : 93 %


#173 : pathogenic
Localisation : 18,919,941 - 21,440,514 | Taille : 2,520,573 bases

Identifiant patient : 389899
Genre : Inconnu

Moyenne des chevauchements : 93 %


#174 : unknown
Localisation : 18,988,952 - 22,115,034 | Taille : 3,126,082 bases

Identifiant patient : 249602
Genre : Inconnu
Phénotype : Hypomimic face, Wide nasal bridge, Delayed speech and language development, Joint laxity, Pes planus, 2\-3 toe syndactyly

Moyenne des chevauchements : 93 %


#175 : pathogenic
Localisation : 19,023,803 - 21,540,347 | Taille : 2,516,544 bases

Identifiant patient : 331623
Genre : Inconnu

Moyenne des chevauchements : 93 %


#176 : pathogenic
Localisation : 18,641,743 - 21,561,492 | Taille : 2,919,749 bases

Identifiant patient : 339412
Genre : Inconnu

Moyenne des chevauchements : 92 %


#177 : pathogenic
Localisation : 18,706,021 - 21,540,317 | Taille : 2,834,296 bases

Identifiant patient : 314903
Genre : Inconnu

Moyenne des chevauchements : 92 %


#178 : unknown
Localisation : 18,706,022 - 21,505,388 | Taille : 2,799,366 bases

Identifiant patient : 276235
Genre : Inconnu
Phénotype : Abnormality of the face

Moyenne des chevauchements : 92 %


#179 : unknown
Localisation : 18,706,022 - 21,505,387 | Taille : 2,799,365 bases

Identifiant patient : 258620
Genre : Inconnu

Moyenne des chevauchements : 92 %


#180 : pathogenic
Localisation : 18,729,943 - 21,505,417 | Taille : 2,775,474 bases

Identifiant patient : 337998
Genre : Inconnu
Phénotype : Omphalocele, Abnormal left ventricle morphology, Omphalocele, Abnormal left ventricle morphology

Moyenne des chevauchements : 92 %


#181 : unknown
Localisation : 18,896,971 - 21,382,953 | Taille : 2,485,982 bases

Identifiant patient : 1645
Genre : Inconnu
Phénotype : Renal agenesis, Abnormality of the uterus, High palate, Long face, Abnormality of the nose, Low\-set ears, Bulbous nose, Nasal speech, Abnormality of the vasculature, Delayed skeletal maturation, Vertebral fusion, Proportionate short stature, Microtia

Moyenne des chevauchements : 92 %


#182 : unknown
Localisation : 18,896,971 - 21,382,953 | Taille : 2,485,982 bases

Identifiant patient : 248268
Genre : Inconnu

Moyenne des chevauchements : 92 %


#183 : unknown
Localisation : 18,896,971 - 21,382,953 | Taille : 2,485,982 bases

Identifiant patient : 248269
Genre : Inconnu

Moyenne des chevauchements : 92 %


#184 : unknown
Localisation : 18,896,971 - 21,382,953 | Taille : 2,485,982 bases

Identifiant patient : 250066
Genre : Inconnu
Phénotype : Cleft palate, Arterial tortuosity, Cleft palate, Arterial tortuosity

Moyenne des chevauchements : 92 %


#185 : unknown
Localisation : 18,896,971 - 21,382,953 | Taille : 2,485,982 bases

Identifiant patient : 253239
Genre : Inconnu

Moyenne des chevauchements : 92 %


#186 : unknown
Localisation : 18,896,971 - 21,382,953 | Taille : 2,485,982 bases

Identifiant patient : 253461
Genre : Inconnu
Phénotype : Intellectual disability, moderate, Intellectual disability, moderate

Moyenne des chevauchements : 92 %


#187 : unknown
Localisation : 18,896,971 - 21,377,825 | Taille : 2,480,854 bases

Identifiant patient : 2184
Genre : Inconnu
Phénotype : Macrocephaly, Abnormality of vision, Tapered finger, Intellectual disability, Truncal obesity

Moyenne des chevauchements : 92 %


#188 : unknown
Localisation : 18,896,971 - 21,379,903 | Taille : 2,482,932 bases

Identifiant patient : 262821
Genre : Inconnu

Moyenne des chevauchements : 92 %


#189 : unknown
Localisation : 18,896,971 - 21,367,944 | Taille : 2,470,973 bases

Identifiant patient : 271877
Genre : Inconnu

Moyenne des chevauchements : 92 %


#190 : unknown
Localisation : 18,896,971 - 21,379,958 | Taille : 2,482,987 bases

Identifiant patient : 248600
Genre : Inconnu
Phénotype : Intellectual disability

Moyenne des chevauchements : 92 %


#191 : unknown
Localisation : 18,896,971 - 21,379,958 | Taille : 2,482,987 bases

Identifiant patient : 253475
Genre : Inconnu

Moyenne des chevauchements : 92 %


#192 : unknown
Localisation : 18,896,971 - 21,382,953 | Taille : 2,485,982 bases

Identifiant patient : 258632
Genre : Inconnu

Moyenne des chevauchements : 92 %


#193 : unknown
Localisation : 18,896,971 - 21,382,904 | Taille : 2,485,933 bases

Identifiant patient : 261259
Genre : Inconnu

Moyenne des chevauchements : 92 %


#194 : unknown
Localisation : 18,896,971 - 21,368,002 | Taille : 2,471,031 bases

Identifiant patient : 250154
Genre : Inconnu

Moyenne des chevauchements : 92 %


#195 : unknown
Localisation : 18,896,971 - 21,368,002 | Taille : 2,471,031 bases

Identifiant patient : 250177
Genre : Inconnu

Moyenne des chevauchements : 92 %


#196 : unknown
Localisation : 18,896,971 - 21,368,002 | Taille : 2,471,031 bases

Identifiant patient : 253466
Genre : Inconnu

Moyenne des chevauchements : 92 %


#197 : unknown
Localisation : 18,896,971 - 21,368,002 | Taille : 2,471,031 bases

Identifiant patient : 253467
Genre : Inconnu

Moyenne des chevauchements : 92 %


#198 : unknown
Localisation : 18,896,971 - 21,368,002 | Taille : 2,471,031 bases

Identifiant patient : 253469
Genre : Inconnu

Moyenne des chevauchements : 92 %


#199 : unknown
Localisation : 18,896,971 - 21,368,002 | Taille : 2,471,031 bases

Identifiant patient : 253473
Genre : Inconnu

Moyenne des chevauchements : 92 %


#200 : unknown
Localisation : 18,896,971 - 21,368,002 | Taille : 2,471,031 bases

Identifiant patient : 253474
Genre : Inconnu

Moyenne des chevauchements : 92 %


#201 : unknown
Localisation : 18,897,021 - 21,367,944 | Taille : 2,470,923 bases

Identifiant patient : 281926
Genre : Inconnu
Phénotype : Intellectual disability, Abnormal facial shape

Moyenne des chevauchements : 92 %


#202 : pathogenic
Localisation : 18,909,727 - 21,388,639 | Taille : 2,478,912 bases

Identifiant patient : 307423
Genre : Inconnu
Phénotype : Short philtrum, Protruding ear, Short neck, Sparse and thin eyebrow, Impaired social interactions, Delayed speech and language development, Global developmental delay, High pitched voice, Pes planus, Low posterior hairline

Moyenne des chevauchements : 92 %


#203 : unknown
Localisation : 18,919,941 - 21,379,958 | Taille : 2,460,017 bases

Identifiant patient : 282723
Genre : Inconnu
Phénotype : Pierre\-Robin sequence, Ventricular septal defect

Moyenne des chevauchements : 92 %


#204 : unknown
Localisation : 18,919,941 - 21,379,958 | Taille : 2,460,017 bases

Identifiant patient : 282761
Genre : Inconnu
Phénotype : Abnormal facial shape, Polymicrogyria, Severe global developmental delay

Moyenne des chevauchements : 92 %


#205 : pathogenic
Localisation : 18,919,941 - 21,379,958 | Taille : 2,460,017 bases

Identifiant patient : 287217
Genre : Inconnu
Phénotype : Otitis media, Recurrent upper respiratory tract infections, Abnormality of the upper urinary tract

Moyenne des chevauchements : 92 %


#206 : uncertain
Localisation : 18,919,941 - 21,379,958 | Taille : 2,460,017 bases

Identifiant patient : 366649
Genre : Inconnu
Phénotype : Congenital malformation of the great arteries

Moyenne des chevauchements : 92 %


#207 : pathogenic
Localisation : 18,967,370 - 21,462,353 | Taille : 2,494,983 bases

Identifiant patient : 362163
Genre : Inconnu
Phénotype : Inguinal hernia, Atopic dermatitis, Ventricular septal defect, Atrial septal defect, Psychomotor retardation

Moyenne des chevauchements : 92 %


#208 : unknown
Localisation : 18,628,047 - 21,540,317 | Taille : 2,912,270 bases

Identifiant patient : 266833
Genre : Inconnu

Moyenne des chevauchements : 91 %


#209 : unknown
Localisation : 18,628,047 - 21,561,492 | Taille : 2,933,445 bases

Identifiant patient : 276670
Genre : Inconnu

Moyenne des chevauchements : 91 %


#210 : unknown
Localisation : 18,661,698 - 21,540,347 | Taille : 2,878,649 bases

Identifiant patient : 337210
Genre : Inconnu
Phénotype : Mild global developmental delay

Moyenne des chevauchements : 91 %


#211 : unknown
Localisation : 18,661,747 - 21,540,317 | Taille : 2,878,570 bases

Identifiant patient : 267553
Genre : Inconnu

Moyenne des chevauchements : 91 %


#212 : pathogenic
Localisation : 18,661,747 - 21,540,317 | Taille : 2,878,570 bases

Identifiant patient : 285197
Genre : Inconnu

Moyenne des chevauchements : 91 %


#213 : unknown
Localisation : 18,661,747 - 21,505,387 | Taille : 2,843,640 bases

Identifiant patient : 256677
Genre : Inconnu

Moyenne des chevauchements : 91 %


#214 : unknown
Localisation : 18,661,747 - 21,505,387 | Taille : 2,843,640 bases

Identifiant patient : 270862
Genre : Inconnu

Moyenne des chevauchements : 91 %


#215 : pathogenic
Localisation : 19,023,823 - 21,464,119 | Taille : 2,440,296 bases

Identifiant patient : 295570
Genre : Inconnu
Phénotype : Generalized hypotonia, Growth delay

Moyenne des chevauchements : 91 %


#216 : unknown
Localisation : 19,023,823 - 21,440,514 | Taille : 2,416,691 bases

Identifiant patient : 366798
Genre : Inconnu

Moyenne des chevauchements : 91 %


#217 : unknown
Localisation : 18,626,107 - 21,465,662 | Taille : 2,839,555 bases

Identifiant patient : 264979
Genre : Inconnu

Moyenne des chevauchements : 90 %


#218 : pathogenic
Localisation : 18,644,789 - 21,465,662 | Taille : 2,820,873 bases

Identifiant patient : 282278
Genre : Inconnu
Phénotype : Protruding ear, Bulbous nose, Anxiety, Global developmental delay, Abnormal facial shape, Hypocalcemic seizures, Hypocalcemia, Elevated circulating thyroid\-stimulating hormone concentration, Facial tics, Nuchal cord, Abnormal size of the palpebral fissures

Moyenne des chevauchements : 90 %


#219 : unknown
Localisation : 18,651,613 - 21,464,119 | Taille : 2,812,506 bases

Identifiant patient : 260367
Genre : Inconnu
Phénotype : Abnormality of the face, Psychosis, Intellectual disability

Moyenne des chevauchements : 90 %


#220 : unknown
Localisation : 18,661,698 - 21,441,944 | Taille : 2,780,246 bases

Identifiant patient : 256278
Genre : Inconnu
Phénotype : Hypertelorism, Intellectual disability, Obesity, Short foot, Short palm, Hypertelorism, Intellectual disability, Obesity, Short foot, Short palm, Hypertelorism, Intellectual disability, Obesity, Short foot, Short palm

Moyenne des chevauchements : 90 %


#221 : pathogenic
Localisation : 18,661,747 - 21,440,484 | Taille : 2,778,737 bases

Identifiant patient : 285026
Genre : Inconnu

Moyenne des chevauchements : 90 %


#222 : unknown
Localisation : 18,909,031 - 21,306,115 | Taille : 2,397,084 bases

Identifiant patient : 256300
Genre : Inconnu
Phénotype : Micrognathia, Abnormality of the eye, Proptosis, Abnormality of prenatal development or birth, Aortic regurgitation, Atrioventricular canal defect

Moyenne des chevauchements : 90 %


#223 : unknown
Localisation : 19,023,623 - 21,383,104 | Taille : 2,359,481 bases

Identifiant patient : 271757
Genre : Inconnu
Phénotype : Narrow mouth, Long face, Mandibular prognathia, Hypomimic face, Abnormality of the pinna, Hyperactivity, Intellectual disability, Long foot, Proportionate short stature, Camptodactyly of finger

Moyenne des chevauchements : 90 %


#224 : unknown
Localisation : 19,023,823 - 21,382,904 | Taille : 2,359,081 bases

Identifiant patient : 266363
Genre : Inconnu

Moyenne des chevauchements : 90 %


#225 : pathogenic
Localisation : 18,653,404 - 21,414,945 | Taille : 2,761,541 bases

Identifiant patient : 291869
Genre : Inconnu
Phénotype : Facial asymmetry, Micrognathia, Deeply set eye, Global developmental delay, Phimosis, Prominent metopic ridge, Deep palmar crease, HP:0007095

Moyenne des chevauchements : 89 %


#226 : pathogenic
Localisation : 18,655,827 - 21,414,945 | Taille : 2,759,118 bases

Identifiant patient : 305652
Genre : Inconnu
Phénotype : Slender nose, Hypermetropia, Aggressive behavior, Constipation, Recurrent upper respiratory tract infections, Severe expressive language delay, Moderate global developmental delay

Moyenne des chevauchements : 89 %


#227 : pathogenic
Localisation : 18,628,146 - 21,407,681 | Taille : 2,779,535 bases

Identifiant patient : 333457
Genre : Inconnu
Phénotype : Thoracic kyphosis, Mild global developmental delay

Moyenne des chevauchements : 88 %


#228 : unknown
Localisation : 18,648,854 - 21,269,224 | Taille : 2,620,370 bases

Identifiant patient : 284001
Genre : Inconnu

Moyenne des chevauchements : 86 %


#229 : unknown
Localisation : 18,894,863 - 21,081,289 | Taille : 2,186,426 bases

Identifiant patient : 279698
Genre : Inconnu

Moyenne des chevauchements : 86 %


#230 : pathogenic
Localisation : 18,844,631 - 21,091,640 | Taille : 2,247,009 bases

Identifiant patient : 277641
Genre : Inconnu
Phénotype : Hypertelorism, Delayed speech and language development, Global developmental delay, Hypocalcemia, Hypertelorism, Delayed speech and language development, Global developmental delay, Hypocalcemia

Moyenne des chevauchements : 85 %


#231 : unknown
Localisation : 18,894,834 - 21,032,298 | Taille : 2,137,464 bases

Identifiant patient : 280510
Genre : Inconnu
Phénotype : Global developmental delay

Moyenne des chevauchements : 85 %


#232 : pathogenic
Localisation : 18,894,834 - 21,032,422 | Taille : 2,137,588 bases

Identifiant patient : 285772
Genre : Inconnu

Moyenne des chevauchements : 85 %


#233 : pathogenic
Localisation : 18,919,941 - 20,992,700 | Taille : 2,072,759 bases

Identifiant patient : 299735
Genre : Inconnu
Phénotype : Autistic behavior, Global developmental delay

Moyenne des chevauchements : 83 %


#234 : pathogenic
Localisation : 18,919,941 - 20,992,700 | Taille : 2,072,759 bases

Identifiant patient : 338915
Genre : Inconnu
Phénotype : Cardiomyopathy

Moyenne des chevauchements : 83 %


#235 : unknown
Localisation : 18,953,011 - 20,992,700 | Taille : 2,039,689 bases

Identifiant patient : 280006
Genre : Inconnu
Phénotype : Intellectual disability, moderate

Moyenne des chevauchements : 83 %


#236 : pathogenic
Localisation : 18,150,178 - 21,445,183 | Taille : 3,295,005 bases

Identifiant patient : 415202
Genre : Inconnu

Moyenne des chevauchements : 82 %


#237 : pathogenic
Localisation : 18,919,941 - 20,942,862 | Taille : 2,022,921 bases

Identifiant patient : 284134
Genre : Inconnu
Phénotype : Intellectual disability, moderate

Moyenne des chevauchements : 82 %


#238 : pathogenic
Localisation : 17,925,446 - 22,175,446 | Taille : 4,250,000 bases

Identifiant patient : 395916
Genre : Inconnu
Phénotype : High palate, Dolichocephaly, Micrognathia, Macrotia, Bulbous nose, Wide nasal bridge, Prominent nose, Strabismus, Upslanted palpebral fissure, Delayed speech and language development, Abnormality of the parathyroid gland, Intellectual disability, Hypertonia, Craniosynostosis, Small for gestational age, Umbilical hernia, Nasal speech, Breech presentation, Frontal bossing, Incoordination, EEG abnormality, Cerebral calcification, Hypocalcemia, Hypoplastic philtrum, Abnormal retinal vascular morphology

Moyenne des chevauchements : 81 %


#239 : unknown
Localisation : 18,648,854 - 21,058,888 | Taille : 2,410,034 bases

Identifiant patient : 285305
Genre : Inconnu
Phénotype : Delayed speech and language development, Motor delay

Moyenne des chevauchements : 81 %


#240 : pathogenic
Localisation : 18,661,723 - 21,025,713 | Taille : 2,363,990 bases

Identifiant patient : 328553
Genre : Inconnu
Phénotype : Seizure, Seizure

Moyenne des chevauchements : 81 %


#241 : pathogenic
Localisation : 18,661,723 - 21,025,713 | Taille : 2,363,990 bases

Identifiant patient : 366443
Genre : Inconnu
Phénotype : Delayed speech and language development, Global developmental delay, Ventricular septal defect, Abnormal facial shape

Moyenne des chevauchements : 81 %


#242 : unknown
Localisation : 18,796,971 - 20,959,043 | Taille : 2,162,072 bases

Identifiant patient : 253471
Genre : Inconnu

Moyenne des chevauchements : 81 %


#243 : unknown
Localisation : 18,919,941 - 20,900,600 | Taille : 1,980,659 bases

Identifiant patient : 278388
Genre : Inconnu
Phénotype : Truncus arteriosus, Congenital malformation of the great arteries

Moyenne des chevauchements : 81 %


#244 : pathogenic
Localisation : 18,916,841 - 20,717,655 | Taille : 1,800,814 bases

Identifiant patient : 282277
Genre : Inconnu
Phénotype : Micrognathia, Flared nostrils, Blepharophimosis, Intellectual disability, Failure to thrive, Intrauterine growth retardation, Abnormal facial shape, Asthma, Thoracolumbar scoliosis, Short stature, Prominent nasal septum, Microtia, Thin eyebrow, Clubbing of fingers, Clubbing of toes, Micrognathia, Flared nostrils, Blepharophimosis, Intellectual disability, Failure to thrive, Intrauterine growth retardation, Abnormal facial shape, Asthma, Thoracolumbar scoliosis, Short stature, Prominent nasal septum, Microtia, Thin eyebrow, Clubbing of fingers, Clubbing of toes

Moyenne des chevauchements : 77 %


#245 : unknown
Localisation : 18,519,185 - 23,222,718 | Taille : 4,703,533 bases

Identifiant patient : 249491
Genre : Inconnu

Moyenne des chevauchements : 76 %


#246 : unknown
Localisation : 19,758,295 - 21,454,122 | Taille : 1,695,827 bases

Identifiant patient : 249413
Genre : Inconnu
Phénotype : Delayed speech and language development, Hypothyroidism, Slender build, Atrial septal defect, Recurrent infections, Proportionate short stature, Microtia, Delayed speech and language development, Hypothyroidism, Slender build, Atrial septal defect, Recurrent infections, Proportionate short stature, Microtia

Moyenne des chevauchements : 74 %


#247 : unknown
Localisation : 18,661,747 - 20,659,576 | Taille : 1,997,829 bases

Identifiant patient : 262415
Genre : Inconnu

Moyenne des chevauchements : 72 %



5 Gène(s) dans la base SFARI

PRODH   SFARI Localisation : 18,912,777 - 18,936,553 | Taille : 23,776 bases
Gène complet

Est syndromique !

Score du gène : 2
 Rapports : 6


CLTCL1   SFARI Localisation : 19,179,473 - 19,291,719 | Taille : 112,246 bases
Gène complet

Pas de donnée sur la syndromicité

Score du gène : 2
 Rapports : 6


TBX1   SFARI Localisation : 19,756,703 - 19,783,593 | Taille : 26,890 bases
Gène complet

Est syndromique !

Rapports : 5

brain/cognition

GNB1L   SFARI Localisation : 19,783,223 - 19,854,939 | Taille : 71,716 bases
Gène complet

Pas de donnée sur la syndromicité

Score du gène : 2
 Rapports : 2


LZTR1   SFARI Localisation : 20,982,269 - 20,999,032 | Taille : 16,763 bases
Gène complet

Pas de donnée sur la syndromicité

Score du gène : 1
 Rapports : 14



0 DGV-Gold chévauché(s) (>=50% seulement)


0 DGV chevauché(s) (>=50% seulement)


10 Cas Patient (>=70% seulement)

18,178,955 - 21,151,129
Taille : 2,972,174 bases
1 Rapports

Moyenne des chevauchements : 77 %


18,339,129 - 21,457,025
Taille : 3,117,896 bases
2 Rapports

Moyenne des chevauchements : 85 %


18,339,129 - 21,444,545
Taille : 3,105,416 bases
2 Rapports

Moyenne des chevauchements : 85 %


18,339,129 - 21,106,369
Taille : 2,767,240 bases
92 Rapports

Moyenne des chevauchements : 78 %


18,339,129 - 21,098,259
Taille : 2,759,130 bases
1 Rapports

Moyenne des chevauchements : 78 %


18,339,129 - 21,086,366
Taille : 2,747,237 bases
1 Rapports

Moyenne des chevauchements : 78 %


18,339,129 - 21,086,226
Taille : 2,747,097 bases
37 Rapports

Moyenne des chevauchements : 78 %


18,339,129 - 21,102,483
Taille : 2,763,354 bases
1 Rapports

Moyenne des chevauchements : 78 %


18,339,129 - 21,207,226
Taille : 2,868,097 bases
1 Rapports

Moyenne des chevauchements : 80 %


18,339,129 - 21,086,365
Taille : 2,747,236 bases
7 Rapports

Moyenne des chevauchements : 78 %


1 Cas Contrôle (>=70% seulement)

nssv3587378
Localisation : 18339129 - 21108435 | Taille : 2769306 bases

Moyenne des chevauchements : 78 %



22 Gène(s) dans la base PanelApp

PI4KA   PanelApp Gène complet - Taille : 151,726 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Moyenne Infantile enterocolitis & monogenic inflammatory bowel disease BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- Expert Review Amber
Haute White matter disorders and cerebral calcification - narrow panel BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- Expert Review Green

- NHS GMS
Haute Ataxia and cerebellar anomalies - narrow panel BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- NHS GMS

- Expert Review Green
Haute Malformations of cortical development BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- NHS GMS

- Expert Review Green

- Expert list
Haute Primary immunodeficiency or monogenic inflammatory bowel disease BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- Expert Review Green
Haute Inherited white matter disorders BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- Expert Review Green
Basse Arthrogryposis BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531

- Expert Review Red

- Literature
Haute Cerebellar hypoplasia BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- Expert Review Green

- Literature
Moyenne Childhood onset hereditary spastic paraplegia BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- Expert Review Amber
Haute DDG2P BIALLELIC, autosomal or pseudoautosomal

- PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- DD-Gene2Phenotype

- Expert Review Green
Haute Intellectual disability - microarray and sequencing BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531

- Expert Review Green
Basse Hereditary ataxia with onset in adulthood BIALLELIC, autosomal or pseudoautosomal

- Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531

- NHS GMS

- Wessex and West Midlands GLH

HIRA   PanelApp Gène complet - Taille : 116,752 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- HIRA-related neurodevelopmental disorder

- Expert Review Red

- DD-Gene2Phenotype
Moyenne Intellectual disability - microarray and sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- Neurodevelopmental disorder

- Expert Review Amber

- Literature

CLTCL1   PanelApp Gène complet - Taille : 112,246 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Autism

- Expert Review Red

- SFARI
Basse Pain syndromes Unknown

- Congenital insensitivity to pain

- Review

- Literaure
Basse Paroxysmal central nervous system disorders Unknown

- Congenital insensitivity to pain

- Expert Review Red

- NHS GMS

- London North GLH

- Wessex and West Midlands GLH
Basse Hereditary neuropathy BIALLELIC, autosomal or pseudoautosomal

- NHS GMS

- South West GLH

- Expert Review Red

- Expert Review
Basse Hereditary neuropathy or pain disorder BIALLELIC, autosomal or pseudoautosomal

- South West GLH

- Expert Review Red

- Expert Review

- NHS GMS

- NHS GMS

- South West GLH

GNB1L   PanelApp Gène complet - Taille : 71,716 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Autism

- Expert Review Red

- SFARI

TXNRD2   PanelApp Gène complet - Taille : 66,303 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Congenital adrenal hypoplasia BIALLELIC, autosomal or pseudoautosomal

- Familial glucocorticoid deficiency

- Expert Review Red

- Expert list
Basse Dilated Cardiomyopathy and conduction defects BIALLELIC, autosomal or pseudoautosomal

- South West GLH

- Expert list

CDC45   PanelApp Gène complet - Taille : 41,155 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal

- Craniosynostosis (Wilkie) (from Ana Beleza)

- Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)

- NHS GMS

- Expert Review Green

- Expert list
Haute Fetal anomalies BIALLELIC, autosomal or pseudoautosomal

- Meier-Gorlin Syndrome and Craniosynostosis

- PAGE DD-Gene2Phenotype

- Expert Review Green
Haute Rare syndromic craniosynostosis or isolated multisuture synostosis BIALLELIC, autosomal or pseudoautosomal

- Coronal synostosis

- Meier-Gorlin syndrome 7, 617063

- NHS GMS

- Expert Review Green

- Expert list
Haute DDG2P BIALLELIC, autosomal or pseudoautosomal

- Meier-Gorlin Syndrome and Craniosynostosis

- DD-Gene2Phenotype

- Expert Review Green
Moyenne Clefting BIALLELIC, autosomal or pseudoautosomal

- Meier-Gorlin syndrome 7, 617063

- MGORS7

- Expert Review Amber

- Radboud University Medical Center, Nijmegen

- Expert list
Basse Intellectual disability - microarray and sequencing BIALLELIC, autosomal or pseudoautosomal

- Meier-Gorlin syndrome 7 617063

- Expert Review Red

- BRIDGE study SPEED NEURO Tier1 Gene
Haute Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal

- Meier-Gorlin syndrome 7, 617063

- Next Generation Children Project

- Expert Review Green

- Expert list
Haute Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal

- Meier-Gorlin syndrome 7, 617063

- Next Generation Children Project

- Expert Review Green

- Expert list
Haute Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal

- Meier-Gorlin syndrome 7, 617063

- Next Generation Children Project

- Expert Review Green

- Expert list

ARVCF   PanelApp Gène complet - Taille : 46,927 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Genomic imprinting MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- Literature
Basse Familial Hirschsprung Disease Unknown

- HSCR

- Hirschsprung s Disease risk

- Expert Review Red

- Literature

TANGO2   PanelApp Gène complet - Taille : 50,150 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute Ketotic hypoglycaemia BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878

- Expert Review Green

- Expert Review
Haute Rhabdomyolysis and metabolic muscle disorders BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878

- Expert Review Green

- Expert Review
Haute Undiagnosed metabolic disorders BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878

- Expert Review Green

- Other
Haute Likely inborn error of metabolism - targeted testing not possible BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878

- Expert Review Green
Basse Possible mitochondrial disorder - nuclear genes BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878

- NHS GMS

- Expert Review Red
Basse Fetal anomalies BIALLELIC, autosomal or pseudoautosomal

- Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

- Expert Review Red

- PAGE DD-Gene2Phenotype
Haute DDG2P BIALLELIC, autosomal or pseudoautosomal

- Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

- DD-Gene2Phenotype

- Expert Review Green
Haute Early onset or syndromic epilepsy BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878

- Wessex and West Midlands GLH

- NHS GMS

- Expert Review Green

- Literature
Haute Intellectual disability - microarray and sequencing BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878

- Expert Review Green

- Expert list
Basse Mitochondrial disorders BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878

- Expert Review Red

- Expert Review
Moyenne Cardiac arrhythmias - additional genes BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878

- Expert Review Amber

- Expert Review
Basse Childhood onset dystonia, chorea or related movement disorder

- Expert Review Red

- London North GLH
Basse Childhood onset dystonia, chorea or related movement disorder

- Expert Review Red

- London North GLH
Haute Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878

- Next Generation Children Project

- Expert Review Green

- Expert list
Haute Acute rhabdomyolysis BIALLELIC, autosomal or pseudoautosomal

- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878

- NHS GMS

- Expert Review Green

MAPK1   PanelApp Exons 5->9 / 9 - Taille : 108,023 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- MAPK1-related Neurodevelopmental Disorder

- DD-Gene2Phenotype

- Expert Review Green
Moyenne Growth failure in early childhood MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- Noonan syndrome 13, OMIM:619087

- Expert Review Amber

- Expert Review
Haute Intellectual disability - microarray and sequencing MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- Global developmental delay

- Intellectual disability

- Behavioral abnormality

- Growth delay

- Abnormality of the face

- Abnormality of the neck

- Abnormality of the cardiovascular system

- Abnormality of the skin

- Expert Review Green

- Literature

PRODH   PanelApp Gène complet - Taille : 23,776 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Autism

- Expert Review Red

- SFARI
Haute Undiagnosed metabolic disorders BIALLELIC, autosomal or pseudoautosomal

- Hyperprolinemia, type I, OMIM

- 239500

- hyperprolinemia type 1, MONDO:0009400

- Expert Review Green

- Literature
Haute Likely inborn error of metabolism - targeted testing not possible BIALLELIC, autosomal or pseudoautosomal

- Hyperprolinemia, type I, OMIM

- 239500

- hyperprolinemia type 1, MONDO:0009400

- Expert Review Green

- London North GLH

- NHS GMS
Moyenne Early onset or syndromic epilepsy BIALLELIC, autosomal or pseudoautosomal

- Hyperprolinemia, type I, OMIM

- 239500

- hyperprolinemia type 1, MONDO:0009400

- Expert Review Amber

- Wessex and West Midlands GLH

- NHS GMS

- Expert Review
Moyenne Intellectual disability - microarray and sequencing BIALLELIC, autosomal or pseudoautosomal

- Hyperprolinemia, type I, OMIM

- 239500

- {Schizophrenia, susceptibility to, OMIM:4}, 600850

- NHS GMS

- Expert Review Amber

- Victorian Clinical Genetics Services

- Radboud University Medical Center, Nijmegen
Basse Childhood onset dystonia, chorea or related movement disorder

- Expert Review Red

- London North GLH

TBX1   PanelApp Gène complet - Taille : 26,890 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute COVID-19 research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability

- DiGeorge syndrome 188400

- Di George syndrome

- T-B+ SCID

- Severe combined immunodeficiency (SCID)

- Combined immunodeficiencies with associated or syndromic features

- Expert Review Green

- IUIS Classification February 2018

- SCID v1.6

- IUIS Classification December 2019

- GRID V2.0

- Victorian Clinical Genetics Services

- ESID Registry 20171117

- IUIS Classification December 2019

- IUIS Classification February 2018

- Victorian Clinical Genetics Services

- ESID Registry 20171117

- GRID V2.0

- SCID v1.6
Moyenne Familial hypoparathyroidism MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- DiGeorge syndrome, OMIM:188400

- Conotruncal anomaly face syndrome, OMIM:217095

- Velocardiofacial syndrome, OMIM:192430

- Expert Review Amber

- Other
Haute Primary immunodeficiency or monogenic inflammatory bowel disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- DiGeorge syndrome, OMIM:188400

- Conotruncal anomaly face syndrome, OMIM:217095

- Velocardiofacial syndrome, OMIM:192430

- NHS GMS

- Expert Review Green

- Other

- IUIS Classification December 2019

- IUIS Classification February 2018

- Victorian Clinical Genetics Services

- ESID Registry 20171117

- GRID V2.0

- SCID v1.6
Basse Autism

- Expert Review Red

- SFARI
Basse Familial non syndromic congenital heart disease

- Tetralogy of Fallot

- Expert Review Red

- Radboud University Medical Center, Nijmegen
Haute Fetal anomalies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- 22Q11.2 DELETION SYNDROME

- PAGE DD-Gene2Phenotype

- Expert Review Green
Haute DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- 22Q11.2 DELETION SYNDROME 188400

- DD-Gene2Phenotype

- Expert Review Green
Basse Monogenic hearing loss

- Expert
Haute Clefting MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- DiGeorge syndrome, OMIM:188400

- Conotruncal anomaly face syndrome, OMIM:217095

- Velocardiofacial syndrome, OMIM:192430

- NHS GMS

- Expert Review Green

- Victorian Clinical Genetics Services
Moyenne Intellectual disability - microarray and sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- 22q11.2 deletion syndrome, Orphanet:567 (includes developmental delay)

- DiGeorge syndrome, 188400 (includes mild to moderate learning difficulties)

- Velocardiofacial syndrome, 192430 (includes learning disability and mental retardation)

- Expert Review Amber

- Victorian Clinical Genetics Services
Haute Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- DiGeorge syndrome, 188400

- Tetralogy of Fallot, 187500

- Conotruncal anomaly face syndrome, 217095

- Velocardiofacial syndrome, 192430

- Next Generation Children Project

- Expert Review Green

- Expert list
Haute Severe Paediatric Disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- DiGeorge syndrome, 188400

- Tetralogy of Fallot, 187500

- Conotruncal anomaly face syndrome, 217095

- Velocardiofacial syndrome, 192430

- Next Generation Children Project

- Expert Review Green

- Expert list

COMT   PanelApp Gène complet - Taille : 28,604 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Familial Hirschsprung Disease Unknown

- HSCR

- Hirschsprung s Disease risk

- Expert Review Red

- Literature

DGCR8   PanelApp Gène complet - Taille : 31,656 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Adult solid tumours cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- Early-onset multinodular goiter and schwannomatosis

- Expert Review Red

- Literature
Haute Familial tumours of the nervous system MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- Expert Review Green

- NHS GMS

SNAP29   PanelApp Gène complet - Taille : 32,207 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute Palmoplantar keratoderma and erythrokeratodermas BIALLELIC, autosomal or pseudoautosomal

- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528

- CEDNIK syndrome

- Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome

- Expert Review Green

- Illumina TruGenome Clinical Sequencing Services

- Radboud University Medical Center, Nijmegen
Haute Ichthyosis and erythrokeratoderma BIALLELIC, autosomal or pseudoautosomal

- Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528

- Expert Review Green
Haute Vici Syndrome and other autophagy disorders BIALLELIC, autosomal or pseudoautosomal

- CEDNIK

- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

- Expert Review Green

- Literature
Haute Palmoplantar keratodermas BIALLELIC, autosomal or pseudoautosomal

- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

- London North GLH

- NHS GMS

- Expert Review Green
Haute Malformations of cortical development BIALLELIC, autosomal or pseudoautosomal

- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528

- CEDNIK syndrome, MONDO:0012290

- Expert Review Green

- Expert list
Moyenne Fetal anomalies BIALLELIC, autosomal or pseudoautosomal

- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528

- CEDNIK syndrome, MONDO:0012290

- Expert Review Amber

- PAGE DD-Gene2Phenotype
Haute DDG2P BIALLELIC, autosomal or pseudoautosomal

- CEDNIK SYNDROME 609528

- Expert Review Green

- DD-Gene2Phenotype
Haute Intellectual disability - microarray and sequencing BIALLELIC, autosomal or pseudoautosomal

- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528

- CEDNIK SYNDROME

- Expert Review Green

- Radboud University Medical Center, Nijmegen
Haute Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal

- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528

- Next Generation Children Project

- Expert Review Green

- Expert list
Haute Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal

- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528

- Next Generation Children Project

- Expert Review Green

- Expert list

CRKL   PanelApp Gène complet - Taille : 36,340 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Familial non syndromic congenital heart disease

- Tetralogy of Fallot (Tomita-Mitchell (2012) Physiol Genomics 44,518)

- Expert Review Red

- Radboud University Medical Center, Nijmegen
Basse DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- Bladder exstrophy plus

- DD-Gene2Phenotype

- Expert Review Red

SCARF2   PanelApp Gène complet - Taille : 13,242 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute Arthrogryposis BIALLELIC, autosomal or pseudoautosomal

- Van den Ende-Gupta syndrome 600920

- Expert Review Green

- Radboud University Medical Center, Nijmegen

- Literature
Haute Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal

- Van den Ende-Gupta syndrome 600920

- NHS GMS

- Expert Review Green

- Radboud University Medical Center, Nijmegen

- Expert list

-

Haute Fetal anomalies BIALLELIC, autosomal or pseudoautosomal

- VAN DEN ENDE-GUPTA SYNDROME

- PAGE DD-Gene2Phenotype

- Expert Review Green
Basse Rare syndromic craniosynostosis or isolated multisuture synostosis BIALLELIC, autosomal or pseudoautosomal

- Van den Ende-Gupta syndrome

- NHS GMS

- Expert Review Red

- Expert Review
Haute DDG2P BIALLELIC, autosomal or pseudoautosomal

- VAN DEN ENDE-GUPTA SYNDROME 600920

- DD-Gene2Phenotype

- Expert Review Green
Haute Clefting BIALLELIC, autosomal or pseudoautosomal

- VAN DEN ENDE-GUPTA SYNDROME

- VDEGS

- Expert Review Green
Basse Intellectual disability - microarray and sequencing BIALLELIC, autosomal or pseudoautosomal

- Van den Ende-Gupta syndrome, 600920

- Expert Review Red

- BRIDGE study SPEED NEURO Tier1 Gene
Haute Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal

- Van den Ende-Gupta syndrome, 600920

- Next Generation Children Project

- Expert Review Green

- Expert list

SERPIND1   PanelApp Gène complet - Taille : 13,607 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute Inherited bleeding disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- Heparin cofactor 2 deficiency

- Thrombophilia due to heparin cofactor II deficiency,612356

- Thrombophilia due to heparin cofactor II deficiency 612356

- Eligibility statement prior genetic testing

- Radboud University Medical Center, Nijmegen

- Other

- Expert Review Green

- BRIDGE Study Tier 1 Gene
Haute Thrombophilia with a likely monogenic cause MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- Thrombophilia due to heparin cofactor II deficiency, OMIM:612356

- North West GLH

- Yorkshire and North East GLH

- London South GLH

- NHS GMS

- Expert Review Green

- Wessex and West Midlands GLH

LZTR1   PanelApp Gène complet - Taille : 16,763 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute Familial Tumours Syndromes of the central & peripheral Nervous system MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- {Schwannomatosis-2, susceptibility to}, 615670

- (originally on Familial schwannomatosis gene panel)

- familial schwannomatosis

- Expert Review Green

- UKGTN

- Radboud University Medical Center, Nijmegen
Haute Fetal hydrops BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Noonan syndrome 10, 616564

- Eligibility statement prior genetic testing

- Expert Review Green
Moyenne Childhood solid tumours BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Noonan syndrome 10 616564

- Schwannomatosis-2, susceptibility to 615670

- Expert Review Amber

- NHS GMS
Haute Pigmentary skin disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- NOONAN SYNDROME 10

- NS2

- NS10, NOONAN SYNDROME 2

- Schwannomatosis-2, susceptibility to 615670

- Noonan syndrome 10 616564

- Expert Review

- Expert Review Green
Basse Hypertrophic cardiomyopathy BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- RASopathy-associated cardiomyopathy

- Expert Review Red

- Literature
Basse Autism

- Expert Review Red

- SFARI
Moyenne Adult solid tumours cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Noonan syndrome 10 616564

- Schwannomatosis-2, susceptibility to 615670

- Expert Review Amber

- NHS GMS
Haute Fetal anomalies BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Fetal hydrops

- Noonan syndrome 10, 616564

- Expert Review Green
Haute DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Noonan syndrome

- Expert Review Green

- DD-Gene2Phenotype
Haute Growth failure in early childhood BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Noonan syndrome 10

- increased nuchal translucency

- Prenatal hydrops

- cardiac findings

- Expert Review Green
Haute Intellectual disability - microarray and sequencing BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Noonan syndrome 10

- Prenatal hydrops

- increased nuchal translucency

- cardiac findings

- Expert Review Green

- Other
Haute RASopathies BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Noonan syndrome 10 616564

- Schwannomatosis-2, susceptibility to 615670

- Noonan syndrome 2, 605275

- Expert Review Green

- Expert Review
Haute Primary lymphoedema BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Schwannomatosis-2, susceptibility to 615670

- Noonan syndrome 10 616564

- Expert Review Green

- Expert Review
Haute Paediatric or syndromic cardiomyopathy BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Schwannomatosis-2, susceptibility to 615670

- Noonan syndrome 10 616564

- NHS GMS

- Expert List

- Expert Review Green
Haute Familial tumours of the nervous system MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- NHS GMS

- Expert Review Green

SLC25A1   PanelApp Gène complet - Taille : 3,158 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse White matter disorders and cerebral calcification - narrow panel BIALLELIC, autosomal or pseudoautosomal

- Global Cerebral Hypomyelination

- Expert Review Red
Basse Inherited white matter disorders BIALLELIC, autosomal or pseudoautosomal

- Global Cerebral Hypomyelination

- Illumina TruGenome Clinical Sequencing Services
Haute Congenital myaesthenic syndrome BIALLELIC, autosomal or pseudoautosomal

- Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197

- Expert Review Green

- NHS GMS

- Wessex and West Midlands GLH
Haute Undiagnosed metabolic disorders BIALLELIC, autosomal or pseudoautosomal

- Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)

- Combined D-2- and L-2-hydroxyglutaric aciduria, 615182

- Expert Review Green

- Literature
Haute Likely inborn error of metabolism - targeted testing not possible BIALLELIC, autosomal or pseudoautosomal

- Combined D-2- and L-2-hydroxyglutaric aciduria, 615182

- Disorders of mitochondrial protein transport

- Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)

- Expert Review Green

- London North GLH

- NHS GMS

- Expert Review Green

- Victorian Clinical Genetics Services
Haute Possible mitochondrial disorder - nuclear genes BIALLELIC, autosomal or pseudoautosomal

- ?Myasthenic syndrome, congenital, 23, presynaptic, 618197

- Combined D-2- and L-2-hydroxyglutaric aciduria, 615182

- NHS GMS

- Expert Review Green
Moyenne Fetal anomalies BIALLELIC, autosomal or pseudoautosomal

- Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182

- Expert Review Amber
Haute DDG2P BIALLELIC, autosomal or pseudoautosomal

- SLC25A1-related Neurometabolic Disorder

- DD-Gene2Phenotype

- Expert Review Green
Haute Early onset or syndromic epilepsy BIALLELIC, autosomal or pseudoautosomal

- Combined D-2- and L-2-hydroxyglutaric aciduria

- Wessex and West Midlands GLH

- NHS GMS

- Expert Review Green

- Expert Review
Haute Intellectual disability - microarray and sequencing BIALLELIC, autosomal or pseudoautosomal

- Combined D-2- and L-2-hydroxyglutaric aciduria 615182

- Expert Review Green

- Expert Review
Haute Mitochondrial disorders BIALLELIC, autosomal or pseudoautosomal

- Disorders of mitochondrial protein transport

- Combined D-2- and L-2-hydroxyglutaric aciduria, 615182

- Expert Review Green

- Victorian Clinical Genetics Services

- Radboud University Medical Center, Nijmegen

- Expert list
Basse Childhood onset dystonia, chorea or related movement disorder

- Expert Review Red

- London North GLH

MRPL40   PanelApp Gène complet - Taille : 3,530 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Basse Likely inborn error of metabolism - targeted testing not possible Unknown

- No OMIM phenotype

- Expert Review Red
Basse Mitochondrial disorders

- No OMIM phenotype

- Radboud University Medical Center, Nijmegen

CLDN5   PanelApp Gène complet - Taille : 4,521 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute White matter disorders and cerebral calcification - narrow panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- Brain calcifications

- Expert Review Green

- NHS GMS

- Literature
Basse DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

- CLDN5-related neurodevelopmental disorder

- Expert Review Red

- DD-Gene2Phenotype
Haute Early onset or syndromic epilepsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- epilepsy, MONDO:0005027

- Expert Review Green

- NHS GMS

- Literature
Haute Intellectual disability - microarray and sequencing MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

- intellectual disability, MONDO:0001071

- Expert Review Green

- NHS GMS

- Literature

GP1BB   PanelApp Gène complet - Taille : 1,232 bases

Confiance Maladie Transmission héréditaire Phénotype Preuve
Haute Inherited bleeding disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Bernard-Soulier syndrome, type B, OMIM:231200

- Giant platelet disorder, isolated, OMIM:231200

- Macrothrombocytopenia

- Expert Review Green

- BRIDGE Study Tier 1 Gene

- Other
Haute Bleeding and platelet disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Bernard-Soulier syndrome, type B, OMIM:231200

- Giant platelet disorder, isolated, OMIM:231200

- Macrothrombocytopenia

- North West GLH

- Yorkshire and North East GLH

- London South GLH

- NHS GMS

- Expert Review Green

- Wessex and West Midlands GLH
Moyenne Cytopenia - NOT Fanconi anaemia BOTH monoallelic and biallelic, autosomal or pseudoautosomal

- Bernard-Soulier syndrome, type B, OMIM:231200

- Giant platelet disorder, isolated, OMIM:231200

- Macrothrombocytopenia

- Expert Review Amber

- Expert review Amber

- NHS GMS

- North West GLH

- London South GLH

- Yorkshire and North East GLH

- Wessex and West Midlands GLH
Haute Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal

- Giant platelet disorder, isolated, 231200

- Bernard-Soulier syndrome, type B, 231200

- Next Generation Children Project

- Expert Review Green

- Expert list
Haute Severe Paediatric Disorders BIALLELIC, autosomal or pseudoautosomal

- Giant platelet disorder, isolated, 231200

- Bernard-Soulier syndrome, type B, 231200

- Next Generation Children Project

- Expert Review Green

- Expert list



Score ClassifyCNV ACMG

Pathogénique

ClassifyCNV Critères de ClassifyCNV ACMG

2A
+ 1

Complete overlap of an established HI gene/genomic region.

2H
+ 0.15

Multiple HI predictors suggest that AT LEAST ONE gene in the interval is haploinsufficient (HI).

3C
+ 0.9

Number of protein-coding RefSeq genes wholly or partially included in the CNV region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

Score AnnotSV

Pathogénique

AnnotSV Critères de ClassifyCNV ACMG

2A
+ 1

Complete overlap of an established HI gene/genomic region.

3C
+ 0.9

Number of protein-coding RefSeq genes wholly or partially included in the CNV region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.