Length (hg19) : 2,903,920 bases - Length (hg38) : 2,537,144 bases
CNV-Hub AChro-Puce
Pathogenic
AChro-Puce Criteria taken into account 1
2 Minor
4 Major
4 Major
4 Minor
4 Minor
4 Minor
5
ISV 2
XCNV 3
ClassifyCNV ACMG 4
AnnotSV ACMG 5
ACMG criteria
ClassifyCNV
2A
+
1
2H
+
0.15
3C
+
0.9
AnnotSV
2A
+
1
3C
+
0.9
Microdeletion syndromes
70 % Overlaps| Name | Start | End | Overlaps | Link |
|---|---|---|---|---|
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) | 19022279 | 21098156 |
Coverage of CNV on syndrome : 83 % |
Decipher |
| DIGEORGE SYNDROME; DGS | 19022279 | 21098156 |
Coverage of CNV on syndrome : 83 % |
DecipherGenomics |
Diseases :
| Gene | Disease | Source | Inheritance |
|---|---|---|---|
| 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 |
| 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 |
| 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 benign CNV0 likely benign CNV
0 uncertain CNV
4 likely pathogenic CNV
172 pathogenic CNV
70% Overlaps
Decipher
0 benign CNV118 unknown CNV
11 uncertain CNV
118 pathogenic CNV
70% Overlaps
DGV-Gold
0
80% Overlaps
0
50% Overlaps
DGV
0
80% Overlaps
1
50% Overlaps
Coe & Al study 6
17
Patient cases
70% Overlaps
0
Controls
70% Overlaps
Genes in OMIM
45
Sources and references
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
2 Microdeletion and microduplication syndromes from litterature (>= 70% only)
DGS/VCFS AC (22q11.2)
Location : 18,832,752 - 21,047,287
| Size : 2,214,535 bases
Cases :
Burnside_2015
Morrow_2018
DGS/VCFS AD (22q11.2)
Location : 18,912,231 - 21,465,672
| Size : 2,553,441 bases
Cases :
Gottlieb_1998
McDermid_2002
Kaminsky_2011
Burnside_2015
Morrow_2018
45 OMIM Gene overlap(s)
Download genes as .csv
Location : 21,061,979 - 21,213,705
Disease : Bilateral perisylvian polymicrogyria
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:600286 Orphanet:98889 HGNC:8983 PMID:25855803 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 19,318,221 - 19,434,973
Disease : 22q11.2 deletion syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:600237 Orphanet:567 HGNC:4916 PMID:15177686 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 19,166,986 - 19,279,242
Disease : Congenital insensitivity to pain with severe intellectual disability
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:601273 Orphanet:453510 HGNC:2093 PMID:26068709 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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 (Autism Database) :
Location : 20,850,200 - 20,941,919
Database :
DecipherGenomics OMIM:607372 GTEx Portal Human Protein Atlas Ensembl
Location : 19,023,795 - 19,109,967
Database :
DecipherGenomics OMIM:600594 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 19,770,746 - 19,842,462
Database :
DecipherGenomics PanelApp OMIM:610778 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 19,863,040 - 19,929,343
Disease : Familial glucocorticoid deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:606448 Orphanet:361 HGNC:18155 PMID:24601690 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 18,957,952 - 19,018,755
Database :
DecipherGenomics OMIM:618040 GTEx Portal Human Protein Atlas Ensembl
Location : 20,795,806 - 20,850,131
Database :
DecipherGenomics OMIM:618020 GTEx Portal Human Protein Atlas Ensembl
Location : 20,004,537 - 20,054,687
Disease : Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:616830 Orphanet:480864 HGNC:25439 PMID:26805782 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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 |
Location : 19,957,419 - 20,004,346
Disease : 22q11.2 deletion syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602269 Orphanet:567 HGNC:728 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 20,228,938 - 20,270,769
Database :
DecipherGenomics OMIM:605566 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 19,466,980 - 19,508,135
Disease : Ear-patella-short stature syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:603465 Orphanet:2554 HGNC:1739 PMID:27374770 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 21,271,695 - 21,308,035
Disease : Distal 22q11.2 microdeletion syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602007 Orphanet:261330 HGNC:2363 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 21,771,660 - 21,805,752
Database :
DecipherGenomics OMIM:607712 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 21,213,295 - 21,245,502
Disease : CEDNIK syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:604202 Orphanet:66631 HGNC:11133 PMID:15968592 PMID:2107345 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 20,067,744 - 20,099,400
Database :
DecipherGenomics PanelApp OMIM:609030 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 19,437,434 - 19,466,725
Disease : 22q11.2 deletion syndrome
Source : Orphanet
Database :
DecipherGenomics OMIM:601754 Orphanet:567 HGNC:12520 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 19,744,226 - 19,771,116
Disease : 22q11.2 deletion syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602054 Orphanet:567 HGNC:11592 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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 (Autism Database) :
Location : 18,900,290 - 18,924,066
Disease : Hyperprolinemia type 1
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:606810 Orphanet:419 HGNC:9453 PMID:20524212 PMID:234626 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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 (Autism Database) :
Location : 20,116,979 - 20,135,530
Database :
DecipherGenomics OMIM:608784 GTEx Portal Human Protein Atlas Ensembl
Location : 21,364,097 - 21,382,302
Database :
DecipherGenomics OMIM:608077 GTEx Portal Human Protein Atlas Ensembl
Location : 21,562,262 - 21,579,843
Database :
DecipherGenomics OMIM:137181 GTEx Portal Human Protein Atlas Ensembl
Location : 21,336,558 - 21,353,321
Disease : Schwannomatosis
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:600574 Orphanet:93921 HGNC:6742 PMID:24362817 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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 (Autism Database) :
Location : 21,319,396 - 21,335,649
Database :
DecipherGenomics OMIM:617298 GTEx Portal Human Protein Atlas Ensembl
Location : 19,117,792 - 19,132,197
Database :
DecipherGenomics OMIM:601755 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 20,748,405 - 20,762,751
Database :
DecipherGenomics OMIM:194548 GTEx Portal Human Protein Atlas Ensembl
Location : 21,128,401 - 21,142,008
Database :
DecipherGenomics PanelApp OMIM:142360 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 20,778,874 - 20,792,113
Disease : Van den Ende-Gupta syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:613619 Orphanet:2460 HGNC:19869 PMID:20887961 PMID:2214038 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 20,103,461 - 20,114,878
Database :
DecipherGenomics OMIM:601180 GTEx Portal Human Protein Atlas Ensembl
Location : 19,702,026 - 19,711,747
Database :
DecipherGenomics OMIM:602724 GTEx Portal Human Protein Atlas Ensembl
Location : 18,893,541 - 18,901,751
Database :
DecipherGenomics OMIM:601279 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 20,455,682 - 20,461,786
Database :
DecipherGenomics OMIM:612699 GTEx Portal Human Protein Atlas Ensembl
Location : 20,301,761 - 20,307,603
Database :
DecipherGenomics OMIM:609459 GTEx Portal Human Protein Atlas Ensembl
Location : 21,738,040 - 21,743,767
Database :
DecipherGenomics OMIM:612700 GTEx Portal Human Protein Atlas Ensembl
Location : 20,099,398 - 20,104,915
Database :
DecipherGenomics OMIM:611151 GTEx Portal Human Protein Atlas Ensembl
Location : 19,510,547 - 19,515,068
Disease : cldn5-related neurodevelopmental disorder
Source : DDG2P
Database :
DecipherGenomics PanelApp OMIM:602101 GTEx Portal Human Protein Atlas Ensembl
Location : 21,383,007 - 21,387,129
Database :
DecipherGenomics OMIM:603752 GTEx Portal Human Protein Atlas Ensembl
Location : 19,420,068 - 19,423,598
Database :
DecipherGenomics PanelApp OMIM:605089 GTEx Portal Human Protein Atlas Ensembl
Location : 19,134,506 - 19,137,805
Database :
DecipherGenomics OMIM:601845 GTEx Portal Human Protein Atlas Ensembl
Location : 19,163,094 - 19,166,252
Disease : Presynaptic congenital myasthenic syndromes
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:190315 Orphanet:98914 HGNC:10979 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
Location : 21,353,393 - 21,356,485
Database :
DecipherGenomics OMIM:609518 GTEx Portal Human Protein Atlas Ensembl
Location : 20,366,211 - 20,368,028
Database :
DecipherGenomics OMIM:612340 GTEx Portal Human Protein Atlas Ensembl
Location : 19,118,821 - 19,120,135
Database :
DecipherGenomics OMIM:610710 GTEx Portal Human Protein Atlas Ensembl
Location : 19,711,062 - 19,712,294
Disease : Fetal and neonatal alloimmune thrombocytopenia
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:138720 Orphanet:853 HGNC:4440 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Show/Hide
| 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. |
142 Non-OMIM Gene overlap(s)
C22orf39
Size : 96,343 bases
Location : 19,338,891 - 19,435,234
ENSG00000290983
Size : 74,844 bases
Location : 21,562,427 - 21,637,271
ENSG00000283809
Size : 41,494 bases
Location : 18,893,751 - 18,935,245
ENSG00000287146
Size : 36,932 bases
Location : 19,279,492 - 19,316,424
PI4KAP1
Size : 44,322 bases
Location : 20,383,513 - 20,427,835
ENSG00000290981
Size : 40,684 bases
Location : 20,970,517 - 21,011,201
COMT
Size : 28,604 bases
Location : 19,928,894 - 19,957,498
NOVEL
Size : 24,129 bases
Location : 20,326,328 - 20,350,457
NOVEL
Size : 29,384 bases
Location : 20,632,023 - 20,661,407
KNOWN
Size : 24,500 bases
Location : 20,692,438 - 20,716,938
ENSG00000290950
Size : 22,118 bases
Location : 20,704,868 - 20,726,986
SMPD4P1
Size : 23,539 bases
Location : 20,956,882 - 20,980,421
ENSG00000291240
Size : 24,325 bases
Location : 21,362,536 - 21,386,861
FAM230B
Size : 24,398 bases
Location : 21,522,047 - 21,546,445
FAM230H
Size : 24,052 bases
Location : 21,655,279 - 21,679,331
ENSG00000284294
Size : 11,330 bases
Location : 18,923,924 - 18,935,254
ENSG00000280418
Size : 7,578 bases
Location : 18,939,447 - 18,947,025
CELSR1P1
Size : 8,665 bases
Location : 18,973,349 - 18,982,014
ENSG00000284874
Size : 7,552 bases
Location : 19,704,743 - 19,712,295
RTL10
Size : 8,758 bases
Location : 19,833,661 - 19,842,419
ENSG00000289960
Size : 12,447 bases
Location : 19,842,495 - 19,854,942
ENSG00000236540
Size : 12,539 bases
Location : 20,045,553 - 20,058,092
PRODHLP
Size : 13,456 bases
Location : 20,287,283 - 20,300,739
FAM247B
Size : 10,393 bases
Location : 20,351,661 - 20,362,054
PI4KAP1
Size : 14,793 bases
Location : 20,383,872 - 20,398,665
ENSG00000288811
Size : 11,078 bases
Location : 20,620,244 - 20,631,322
USP41
Size : 13,630 bases
Location : 20,717,911 - 20,731,541
ENSG00000277971
Size : 17,379 bases
Location : 20,783,528 - 20,800,907
POM121L4P
Size : 9,009 bases
Location : 21,044,217 - 21,053,226
LINC01637
Size : 7,590 bases
Location : 21,311,380 - 21,318,970
ENSG00000285314
Size : 18,659 bases
Location : 21,333,751 - 21,352,410
THAP7-AS1
Size : 8,456 bases
Location : 21,356,175 - 21,364,631
ENSG00000226872
Size : 12,763 bases
Location : 21,385,643 - 21,398,406
ENSG00000290799
Size : 9,769 bases
Location : 21,389,532 - 21,399,301
LRRC74B
Size : 18,222 bases
Location : 21,400,235 - 21,418,457
ENSG00000284665
Size : 9,936 bases
Location : 21,425,371 - 21,435,307
ENSG00000291044
Size : 19,302 bases
Location : 21,457,273 - 21,476,575
ENSG00000197210
Size : 9,844 bases
Location : 21,468,896 - 21,478,740
ENSG00000290961
Size : 10,395 bases
Location : 21,547,649 - 21,558,044
ENSG00000283583
Size : 630 bases
Location : 18,968,208 - 18,968,838
ENSG00000271275
Size : 457 bases
Location : 18,984,651 - 18,985,108
ENSG00000283366
Size : 153 bases
Location : 19,001,866 - 19,002,019
ENSG00000270393
Size : 873 bases
Location : 19,005,556 - 19,006,429
FAM246C
Size : 1,718 bases
Location : 19,017,037 - 19,018,755
CA15P1
Size : 3,000 bases
Location : 19,019,077 - 19,022,077
NOVEL
Size : 111 bases
Location : 19,032,769 - 19,032,880
DGCR11
Size : 2,213 bases
Location : 19,033,675 - 19,035,888
ENSG00000237347
Size : 711 bases
Location : 19,043,314 - 19,044,025
ENSG00000281530
Size : 802 bases
Location : 19,048,554 - 19,049,356
ENSG00000223461
Size : 2,974 bases
Location : 19,109,042 - 19,112,016
ENSG00000272682
Size : 4,140 bases
Location : 19,111,822 - 19,115,962
TSSK1A
Size : 767 bases
Location : 19,112,392 - 19,113,159
ENSG00000289481
Size : 798 bases
Location : 19,158,329 - 19,159,127
LINC01311
Size : 1,456 bases
Location : 19,158,908 - 19,160,364
ENSG00000286367
Size : 3,681 bases
Location : 19,183,913 - 19,187,594
ENSG00000230194
Size : 296 bases
Location : 19,225,966 - 19,226,262
NOVEL
Size : 93 bases
Location : 19,237,396 - 19,237,489
KRT18P62
Size : 1,286 bases
Location : 19,245,043 - 19,246,329
KNOWN
Size : 276 bases
Location : 19,353,289 - 19,353,565
UFD1-AS1
Size : 2,212 bases
Location : 19,435,416 - 19,437,628
ENSG00000273300
Size : 426 bases
Location : 19,441,702 - 19,442,128
ENSG00000273212
Size : 459 bases
Location : 19,444,026 - 19,444,485
ENSG00000287652
Size : 2,197 bases
Location : 19,508,095 - 19,510,292
LINC00895
Size : 1,636 bases
Location : 19,552,726 - 19,554,362
ENSG00000230485
Size : 2,824 bases
Location : 19,618,273 - 19,621,097
ENSG00000225007
Size : 532 bases
Location : 19,654,546 - 19,655,078
RPL7AP70
Size : 800 bases
Location : 19,779,817 - 19,780,617
ENSG00000232926
Size : 681 bases
Location : 19,874,812 - 19,875,493
ENSG00000289946
Size : 5,837 bases
Location : 19,921,184 - 19,927,021
KNOWN
Size : 81 bases
Location : 19,951,276 - 19,951,357
KNOWN
Size : 81 bases
Location : 20,020,662 - 20,020,743
ENSG00000268292
Size : 1,153 bases
Location : 20,052,075 - 20,053,228
KNOWN
Size : 87 bases
Location : 20,073,269 - 20,073,356
KNOWN
Size : 84 bases
Location : 20,073,581 - 20,073,665
ENSG00000243762
Size : 1,054 bases
Location : 20,098,344 - 20,099,398
NOVEL
Size : 124 bases
Location : 20,113,925 - 20,114,049
CCDC188
Size : 2,639 bases
Location : 20,135,939 - 20,138,578
LINC02891
Size : 6,189 bases
Location : 20,186,252 - 20,192,441
LINC00896
Size : 2,144 bases
Location : 20,193,903 - 20,196,047
KNOWN
Size : 77 bases
Location : 20,236,657 - 20,236,734
ENSG00000273343
Size : 630 bases
Location : 20,305,642 - 20,306,272
ENSG00000273139
Size : 1,104 bases
Location : 20,307,627 - 20,308,731
ENSG00000235578
Size : 1,162 bases
Location : 20,330,726 - 20,331,888
ENSG00000277017
Size : 4,248 bases
Location : 20,336,866 - 20,341,114
TMEM191B
Size : 2,771 bases
Location : 20,377,669 - 20,380,440
NOVEL
Size : 76 bases
Location : 20,434,077 - 20,434,153
NOVEL
Size : 142 bases
Location : 20,455,222 - 20,455,364
NOVEL
Size : 82 bases
Location : 20,455,450 - 20,455,532
KNOWN
Size : 300 bases
Location : 20,455,669 - 20,455,969
SUSD2P2
Size : 1,950 bases
Location : 20,473,206 - 20,475,156
FAM246B
Size : 698 bases
Location : 20,483,851 - 20,484,549
CA15P2
Size : 1,960 bases
Location : 20,486,312 - 20,488,272
PPP1R26P2
Size : 3,594 bases
Location : 20,499,890 - 20,503,484
GGTLC5P
Size : 5,754 bases
Location : 20,610,447 - 20,616,201
NOVEL
Size : 1,583 bases
Location : 20,644,408 - 20,645,991
PPP1R26P3
Size : 3,799 bases
Location : 20,670,709 - 20,674,508
ENSG00000287446
Size : 5,629 bases
Location : 20,703,048 - 20,708,677
KNOWN
Size : 102 bases
Location : 20,771,087 - 20,771,189
ENSG00000215493
Size : 1,702 bases
Location : 20,804,409 - 20,806,111
NOVEL
Size : 108 bases
Location : 20,829,490 - 20,829,598
NOVEL
Size : 110 bases
Location : 20,835,445 - 20,835,555
KNOWN
Size : 273 bases
Location : 20,836,224 - 20,836,497
KRT18P5
Size : 1,290 bases
Location : 20,837,102 - 20,838,392
NOVEL
Size : 91 bases
Location : 20,837,512 - 20,837,603
ENSG00000236003
Size : 1,800 bases
Location : 20,876,357 - 20,878,157
CCDC74BP1
Size : 4,722 bases
Location : 20,941,783 - 20,946,505
IGLL4P
Size : 132 bases
Location : 20,986,906 - 20,987,038
SLC9A3P2
Size : 2,020 bases
Location : 21,007,017 - 21,009,037
NOVEL
Size : 81 bases
Location : 21,011,322 - 21,011,403
ABHD17AP4
Size : 3,148 bases
Location : 21,022,124 - 21,025,272
ENSG00000290982
Size : 1,286 bases
Location : 21,044,319 - 21,045,605
BCRP5
Size : 972 bases
Location : 21,052,250 - 21,053,222
TMEM191A
Size : 3,492 bases
Location : 21,055,402 - 21,058,894
TMEM191A
Size : 2,483 bases
Location : 21,056,295 - 21,058,778
NOVEL
Size : 2,873 bases
Location : 21,077,335 - 21,080,208
ENSG00000272600
Size : 2,008 bases
Location : 21,243,494 - 21,245,502
KNOWN
Size : 265 bases
Location : 21,309,449 - 21,309,714
ENSG00000272829
Size : 882 bases
Location : 21,335,640 - 21,336,522
ENSG00000284060
Size : 6,558 bases
Location : 21,357,184 - 21,363,742
NOVEL
Size : 2,706 bases
Location : 21,358,030 - 21,360,736
TUBA3FP
Size : 6,099 bases
Location : 21,362,482 - 21,368,581
KNOWN
Size : 96 bases
Location : 21,388,465 - 21,388,561
P2RX6P
Size : 2,674 bases
Location : 21,396,632 - 21,399,306
TUBA3GP
Size : 4,635 bases
Location : 21,419,751 - 21,424,386
BCRP2
Size : 3,829 bases
Location : 21,470,218 - 21,474,047
POM121L7P
Size : 2,403 bases
Location : 21,479,949 - 21,482,352
E2F6P2
Size : 747 bases
Location : 21,495,913 - 21,496,660
ENSG00000234503
Size : 1,983 bases
Location : 21,532,181 - 21,534,164
FAM247A
Size : 177 bases
Location : 21,557,743 - 21,557,920
ENSG00000283145
Size : 378 bases
Location : 21,583,049 - 21,583,427
E2F6P3
Size : 742 bases
Location : 21,622,450 - 21,623,192
POM121L8P
Size : 1,280 bases
Location : 21,637,170 - 21,638,450
BCRP6
Size : 3,826 bases
Location : 21,645,049 - 21,648,875
ENSG00000237407
Size : 1,984 bases
Location : 21,667,209 - 21,669,193
PPP1R26P5
Size : 3,663 bases
Location : 21,695,884 - 21,699,547
LINC01651
Size : 3,504 bases
Location : 21,708,852 - 21,712,356
FAM246A
Size : 698 bases
Location : 21,714,890 - 21,715,588
ENSG00000226534
Size : 1,881 bases
Location : 21,724,353 - 21,726,234
KNOWN
Size : 300 bases
Location : 21,743,480 - 21,743,780
NOVEL
Size : 82 bases
Location : 21,743,917 - 21,743,999
NOVEL
Size : 142 bases
Location : 21,744,085 - 21,744,227
NOVEL
Size : 76 bases
Location : 21,765,339 - 21,765,415
176 ClinGen CNV overlap(s) (>= 70% only)
0 Benign CNV 0 Likely benign CNV 0 Uncertain CNV 4 Likely pathogenic CNV 172 Pathogenic CNV
#1 Pathogenic (22q11.21)
Location : 18,886,914 - 21,811,991 |
Size : 2,925,077 bases
Score : 1
#2 Pathogenic (nssv582145)
Location : 18,891,525 - 21,796,215 |
Size : 2,904,690 bases
Score : 0
#3 Pathogenic (22q11.21)
Location : 18,900,754 - 21,800,277 |
Size : 2,899,523 bases
Score : 1
Phenotype :
DiGeorge syndrome
#4 Pathogenic (22q11.21)
Location : 18,916,827 - 21,800,797 |
Size : 2,883,970 bases
Score : 1
#5 Pathogenic (22q11.21)
Location : 18,916,841 - 21,798,907 |
Size : 2,882,066 bases
Score : 0
Phenotype :
DiGeorge syndrome
#6 Pathogenic (22q11.21)
Location : 18,916,841 - 21,798,907 |
Size : 2,882,066 bases
Score : 0
#7 Pathogenic (nssv13649789)
Location : 18,916,841 - 21,804,716 |
Size : 2,887,875 bases
Score : 0
#8 Pathogenic (nssv3396760)
Location : 18,916,841 - 21,804,886 |
Size : 2,888,045 bases
Score : 0
#9 Pathogenic (22q11.21)
Location : 18,916,842 - 21,800,471 |
Size : 2,883,629 bases
Score : 1
#10 Pathogenic (22q11.21)
Location : 18,919,476 - 21,800,471 |
Size : 2,880,995 bases
Score : 0
Phenotype :
Velocardiofacial syndrome,DiGeorge syndrome
#11 Pathogenic (22q11.21)
Location : 18,844,631 - 21,797,812 |
Size : 2,953,181 bases
Score : 1
#12 Pathogenic (nssv580005)
Location : 18,919,941 - 21,809,009 |
Size : 2,889,068 bases
Score : 1
#13 Pathogenic (22q11.21)
Location : 18,878,408 - 21,907,671 |
Size : 3,029,263 bases
Score : 0
#14 Pathogenic (22q11.21)
Location : 18,889,489 - 21,917,190 |
Size : 3,027,701 bases
Score : 1
#15 Pathogenic (22q11.21)
Location : 18,916,842 - 21,915,509 |
Size : 2,998,667 bases
Score : 1
#16 Pathogenic (nssv579989)
Location : 18,706,000 - 21,809,009 |
Size : 3,103,009 bases
Score : 1
#17 Pathogenic (22q11.21)
Location : 18,728,117 - 21,811,991 |
Size : 3,083,874 bases
Score : 0
#18 Pathogenic (22q11.21)
Location : 18,893,343 - 21,650,280 |
Size : 2,756,937 bases
Score : 0
Phenotype :
DiGeorge syndrome
#19 Pathogenic (22q11.21)
Location : 18,626,107 - 21,800,797 |
Size : 3,174,690 bases
Score : 0
#20 Pathogenic (22q11.21)
Location : 18,631,363 - 21,800,471 |
Size : 3,169,108 bases
Score : 0
Phenotype :
Velocardiofacial syndrome,DiGeorge syndrome
#21 Pathogenic (22q11.21)
Location : 18,636,748 - 21,800,471 |
Size : 3,163,723 bases
Score : 0
Phenotype :
Velocardiofacial syndrome,DiGeorge syndrome
#22 Pathogenic (22q11.21)
Location : 18,644,542 - 21,800,797 |
Size : 3,156,255 bases
Score : 1
#23 Pathogenic (22q11.21)
Location : 18,644,789 - 21,800,471 |
Size : 3,155,682 bases
Score : 0
Phenotype :
DiGeorge syndrome
#24 Pathogenic (22q11.21)
Location : 18,644,789 - 21,798,907 |
Size : 3,154,118 bases
Score : 0
Phenotype :
DiGeorge syndrome
#25 Pathogenic (22q11.21)
Location : 18,645,352 - 21,800,797 |
Size : 3,155,445 bases
Score : 0
Phenotype :
DiGeorge syndrome
#26 Pathogenic (22q11.21)
Location : 18,648,865 - 21,800,797 |
Size : 3,151,932 bases
Score : 0
#27 Pathogenic (22q11.21)
Location : 18,648,865 - 21,798,907 |
Size : 3,150,042 bases
Score : 0
Phenotype :
DiGeorge syndrome
#28 Pathogenic (nssv582649)
Location : 18,661,723 - 21,809,009 |
Size : 3,147,286 bases
Score : 0
#29 Pathogenic (22q11.21)
Location : 18,844,631 - 21,608,479 |
Size : 2,763,848 bases
Score : 0
#30 Likely pathogenic (del)
Location : 18,861,208 - 21,630,630 |
Size : 2,769,422 bases
Score : 1
Phenotype :
Megacolon
#31 Pathogenic (Single allele)
Location : 18,893,881 - 21,563,420 |
Size : 2,669,539 bases
Score : 1
Phenotype :
DiGeorge syndrome
#32 Pathogenic (Single allele)
Location : 18,893,881 - 21,571,027 |
Size : 2,677,146 bases
Score : 1
Phenotype :
DiGeorge syndrome
#33 Pathogenic (22q11.21)
Location : 18,893,887 - 21,570,386 |
Size : 2,676,499 bases
Score : 1
#34 Pathogenic (nssv575800)
Location : 18,894,834 - 21,561,514 |
Size : 2,666,680 bases
Score : 0
#35 Likely pathogenic (22q11.21)
Location : 18,655,797 - 21,726,191 |
Size : 3,070,394 bases
Score : 0
Phenotype :
Syndromic anorectal malformation
#36 Pathogenic (22q11.21)
Location : 18,660,134 - 21,737,597 |
Size : 3,077,463 bases
Score : 1
Phenotype :
Chromosome 22q11.2 deletion syndrome,distal
#37 Pathogenic (nssv582358)
Location : 18,765,084 - 21,661,435 |
Size : 2,896,351 bases
Score : 0
#38 Pathogenic (22q11.21)
Location : 18,765,101 - 21,661,435 |
Size : 2,896,334 bases
Score : 0
#39 Likely pathogenic (Single allele)
Location : 18,789,964 - 21,591,197 |
Size : 2,801,233 bases
Score : 1
Phenotype :
Inherited Immunodeficiency Diseases
#40 Pathogenic (Single allele)
Location : 18,890,263 - 21,540,347 |
Size : 2,650,084 bases
Score : 1
Phenotype :
Neurodevelopmental disorder
#41 Pathogenic (22q11.21)
Location : 18,894,834 - 21,505,417 |
Size : 2,610,583 bases
Score : 1
Phenotype :
14 conditions
#42 Pathogenic (nssv575807)
Location : 18,894,834 - 21,505,417 |
Size : 2,610,583 bases
Score : 0
#43 Pathogenic (nssv580035)
Location : 18,919,941 - 21,561,514 |
Size : 2,641,573 bases
Score : 2
#44 Pathogenic (nssv576777)
Location : 18,919,941 - 21,561,514 |
Size : 2,641,573 bases
Score : 0
#45 Pathogenic (22q11.21)
Location : 18,639,779 - 21,910,280 |
Size : 3,270,501 bases
Score : 0
Phenotype :
Syndromic anorectal malformation
#46 Pathogenic (22q11.21)
Location : 18,644,789 - 21,915,509 |
Size : 3,270,720 bases
Score : 0
#47 Pathogenic (22q11.21)
Location : 18,872,507 - 21,465,050 |
Size : 2,592,543 bases
Score : 0
#48 Pathogenic (22q11.21)
Location : 18,875,868 - 21,470,273 |
Size : 2,594,405 bases
Score : 0
#49 Pathogenic (22q11.21)
Location : 18,875,955 - 21,466,715 |
Size : 2,590,760 bases
Score : 0
#50 Pathogenic (nssv1610455)
Location : 18,876,629 - 21,465,659 |
Size : 2,589,030 bases
Score : 0
#51 Pathogenic (22q11.21)
Location : 18,878,408 - 21,465,050 |
Size : 2,586,642 bases
Score : 0
#52 Pathogenic (22q11.21)
Location : 18,884,513 - 21,484,289 |
Size : 2,599,776 bases
Score : 0
#53 Pathogenic (22q11.21)
Location : 18,884,713 - 21,483,289 |
Size : 2,598,576 bases
Score : 1
#54 Pathogenic (22q11.21)
Location : 18,886,914 - 21,467,387 |
Size : 2,580,473 bases
Score : 0
#55 Pathogenic (22q11.21)
Location : 18,886,914 - 21,465,050 |
Size : 2,578,136 bases
Score : 0
#56 Pathogenic (Single allele)
Location : 18,886,914 - 21,463,730 |
Size : 2,576,816 bases
Score : 0
Phenotype :
Intellectual disability
#57 Pathogenic (22q11.21)
Location : 18,886,914 - 21,463,730 |
Size : 2,576,816 bases
Score : 1
#58 Pathogenic (22q11.21)
Location : 18,886,914 - 21,463,730 |
Size : 2,576,816 bases
Score : 0
#59 Pathogenic (22q11.21)
Location : 18,889,489 - 21,466,715 |
Size : 2,577,226 bases
Score : 0
#60 Pathogenic (Single allele)
Location : 18,889,489 - 21,463,730 |
Size : 2,574,241 bases
Score : 0
Phenotype :
Intellectual disability,Epilepsy
#61 Pathogenic (22q11.21)
Location : 18,889,570 - 21,464,697 |
Size : 2,575,127 bases
Score : 1
#62 Pathogenic (22q11.21)
Location : 18,889,692 - 21,465,485 |
Size : 2,575,793 bases
Score : 1
#63 Pathogenic (22q11.21)
Location : 18,889,949 - 21,466,053 |
Size : 2,576,104 bases
Score : 1
#64 Pathogenic (22q11.21)
Location : 18,889,968 - 21,462,658 |
Size : 2,572,690 bases
Score : 0
#65 Pathogenic (nssv579992)
Location : 18,890,270 - 21,461,811 |
Size : 2,571,541 bases
Score : 1
#66 Pathogenic (22q11.21)
Location : 18,892,574 - 21,460,220 |
Size : 2,567,646 bases
Score : 1
Phenotype :
DiGeorge syndrome
#67 Pathogenic (nssv585256)
Location : 18,894,834 - 21,461,752 |
Size : 2,566,918 bases
Score : 0
#68 Pathogenic (nssv1495101)
Location : 18,894,834 - 21,461,811 |
Size : 2,566,977 bases
Score : 0
#69 Pathogenic (nssv1495087)
Location : 18,894,834 - 21,464,119 |
Size : 2,569,285 bases
Score : 0
#70 Pathogenic (22q11.21)
Location : 18,912,230 - 21,465,672 |
Size : 2,553,442 bases
Score : 0
Phenotype :
Velocardiofacial syndrome,DiGeorge syndrome
#71 Pathogenic (nssv580030)
Location : 18,919,941 - 21,505,558 |
Size : 2,585,617 bases
Score : 1
#72 Pathogenic (nssv580039)
Location : 18,919,941 - 21,505,417 |
Size : 2,585,476 bases
Score : 2
#73 Pathogenic (nssv583020)
Location : 18,919,941 - 21,505,417 |
Size : 2,585,476 bases
Score : 0
#74 Pathogenic (22q11.21)
Location : 18,844,631 - 21,463,730 |
Size : 2,619,099 bases
Score : 1
#75 Pathogenic (22q11.21)
Location : 18,861,747 - 21,463,730 |
Size : 2,601,983 bases
Score : 0
#76 Pathogenic (nssv13645433)
Location : 18,890,041 - 21,440,455 |
Size : 2,550,414 bases
Score : 0
#77 Pathogenic (22q11.21)
Location : 18,893,887 - 21,414,817 |
Size : 2,520,930 bases
Score : 1
#78 Pathogenic (22q11.21)
Location : 18,894,077 - 21,414,817 |
Size : 2,520,740 bases
Score : 1
#79 Pathogenic (22q11.21)
Location : 18,894,338 - 21,440,514 |
Size : 2,546,176 bases
Score : 1
#80 Pathogenic (nssv13656453)
Location : 18,894,338 - 21,440,455 |
Size : 2,546,117 bases
Score : 0
#81 Pathogenic (nssv706740)
Location : 18,894,819 - 21,440,515 |
Size : 2,545,696 bases
Score : 0
#82 Pathogenic (22q11.21)
Location : 18,894,834 - 21,440,514 |
Size : 2,545,680 bases
Score : 1
#83 Pathogenic (nssv579998)
Location : 18,896,971 - 21,440,514 |
Size : 2,543,543 bases
Score : 1
#84 Pathogenic (22q11.21)
Location : 18,900,441 - 21,440,514 |
Size : 2,540,073 bases
Score : 1
#85 Pathogenic (22q11.21)
Location : 18,901,003 - 21,408,430 |
Size : 2,507,427 bases
Score : 1
Phenotype :
DiGeorge syndrome
#86 Pathogenic (22q11.21)
Location : 18,912,402 - 21,431,174 |
Size : 2,518,772 bases
Score : 0
Phenotype :
DiGeorge syndrome
#87 Pathogenic (22q11.21)
Location : 18,912,402 - 21,431,174 |
Size : 2,518,772 bases
Score : 1
Phenotype :
DiGeorge syndrome
#88 Pathogenic (22q11.21)
Location : 18,912,869 - 21,431,174 |
Size : 2,518,305 bases
Score : 1
Phenotype :
DiGeorge syndrome
#89 Likely pathogenic (22q11.21)
Location : 18,915,346 - 21,463,730 |
Size : 2,548,384 bases
Score : 0
Phenotype :
VATER association
#90 Pathogenic (nssv3396779)
Location : 18,916,826 - 21,465,662 |
Size : 2,548,836 bases
Score : 0
#91 Pathogenic (nssv3395105)
Location : 18,916,827 - 21,465,659 |
Size : 2,548,832 bases
Score : 0
#92 Pathogenic (nssv3397302)
Location : 18,916,827 - 21,465,662 |
Size : 2,548,835 bases
Score : 0
#93 Pathogenic (22q11.21)
Location : 18,916,841 - 21,465,659 |
Size : 2,548,818 bases
Score : 0
#94 Pathogenic (nssv3394942)
Location : 18,916,841 - 21,465,659 |
Size : 2,548,818 bases
Score : 0
#95 Pathogenic (22q11.21)
Location : 18,916,841 - 21,465,662 |
Size : 2,548,821 bases
Score : 0
#96 Pathogenic (nssv3397352)
Location : 18,916,841 - 21,465,662 |
Size : 2,548,821 bases
Score : 0
#97 Pathogenic (22q11.21)
Location : 18,916,842 - 21,465,659 |
Size : 2,548,817 bases
Score : 1
#98 Pathogenic (nssv13639704)
Location : 18,917,046 - 21,465,662 |
Size : 2,548,616 bases
Score : 0
#99 Pathogenic (nssv13638955)
Location : 18,917,046 - 21,465,659 |
Size : 2,548,613 bases
Score : 0
#100 Pathogenic (22q11.21)
Location : 18,919,578 - 21,460,595 |
Size : 2,541,017 bases
Score : 1
#101 Pathogenic (nssv580038)
Location : 18,919,941 - 21,440,514 |
Size : 2,520,573 bases
Score : 2
#102 Pathogenic (nssv582937)
Location : 18,919,941 - 21,440,514 |
Size : 2,520,573 bases
Score : 0
#103 Pathogenic (22q11.21)
Location : 18,922,150 - 21,449,911 |
Size : 2,527,761 bases
Score : 0
Phenotype :
Velocardiofacial syndrome,DiGeorge syndrome
#104 Pathogenic (22q11.21)
Location : 18,935,462 - 21,465,659 |
Size : 2,530,197 bases
Score : 1
#105 Pathogenic (nssv580054)
Location : 18,938,160 - 21,455,556 |
Size : 2,517,396 bases
Score : 1
#106 Pathogenic (nssv579970)
Location : 18,661,723 - 21,561,514 |
Size : 2,899,791 bases
Score : 1
#107 Pathogenic (nssv576771)
Location : 18,661,723 - 21,561,514 |
Size : 2,899,791 bases
Score : 0
#108 Pathogenic (nssv579976)
Location : 18,671,628 - 21,536,841 |
Size : 2,865,213 bases
Score : 1
#109 Pathogenic (nssv579983)
Location : 18,706,000 - 21,505,417 |
Size : 2,799,417 bases
Score : 1
#110 Pathogenic (nssv575714)
Location : 18,706,000 - 21,505,417 |
Size : 2,799,417 bases
Score : 0
#111 Pathogenic (22q11.21)
Location : 18,834,444 - 21,414,817 |
Size : 2,580,373 bases
Score : 1
#112 Pathogenic (nssv579995)
Location : 18,890,270 - 21,394,730 |
Size : 2,504,460 bases
Score : 1
#113 Pathogenic (nssv582203)
Location : 18,896,971 - 21,382,953 |
Size : 2,485,982 bases
Score : 0
#114 Pathogenic (g.)
Location : 18,900,687 - 21,351,637 |
Size : 2,450,950 bases
Score : 1
Phenotype :
DiGeorge syndrome,
#115 Pathogenic (nssv580055)
Location : 18,962,312 - 21,455,556 |
Size : 2,493,244 bases
Score : 1
#116 Pathogenic (nssv3396952)
Location : 18,970,560 - 21,465,662 |
Size : 2,495,102 bases
Score : 0
#117 Pathogenic (nssv1610243)
Location : 18,999,802 - 21,455,499 |
Size : 2,455,697 bases
Score : 0
#118 Pathogenic (nssv580057)
Location : 18,999,802 - 21,455,556 |
Size : 2,455,754 bases
Score : 1
#119 Pathogenic (nssv580058)
Location : 19,029,601 - 21,505,417 |
Size : 2,475,816 bases
Score : 1
#120 Pathogenic (nssv1603659)
Location : 18,661,698 - 21,505,445 |
Size : 2,843,747 bases
Score : 0
#121 Pathogenic (22q11.21)
Location : 18,661,723 - 21,505,417 |
Size : 2,843,694 bases
Score : 1
Phenotype :
Velocardiofacial syndrome,DiGeorge syndrome
#122 Pathogenic (nssv706492)
Location : 18,661,723 - 21,505,417 |
Size : 2,843,694 bases
Score : 0
#123 Pathogenic (nssv3396467)
Location : 18,706,000 - 21,464,119 |
Size : 2,758,119 bases
Score : 0
#124 Pathogenic (22q11.21)
Location : 19,016,662 - 21,463,730 |
Size : 2,447,068 bases
Score : 0
#125 Pathogenic (22q11.21)
Location : 19,023,800 - 21,440,514 |
Size : 2,416,714 bases
Score : 1
#126 Pathogenic (nssv13649713)
Location : 19,023,800 - 21,440,455 |
Size : 2,416,655 bases
Score : 0
#127 Pathogenic (nssv3395024)
Location : 19,024,655 - 21,465,659 |
Size : 2,441,004 bases
Score : 0
#128 Pathogenic (nssv13638915)
Location : 19,024,656 - 21,465,662 |
Size : 2,441,006 bases
Score : 0
#129 Pathogenic (nssv580059)
Location : 19,035,016 - 21,461,811 |
Size : 2,426,795 bases
Score : 1
#130 Pathogenic (nssv1610376)
Location : 19,035,322 - 21,464,119 |
Size : 2,428,797 bases
Score : 0
#131 Pathogenic (22q11.21)
Location : 19,046,676 - 21,465,662 |
Size : 2,418,986 bases
Score : 1
#132 Pathogenic (nssv579958)
Location : 18,628,018 - 21,505,417 |
Size : 2,877,399 bases
Score : 1
#133 Pathogenic (nssv706340)
Location : 18,628,018 - 21,505,417 |
Size : 2,877,399 bases
Score : 0
#134 Pathogenic (nssv1495089)
Location : 18,628,018 - 21,464,119 |
Size : 2,836,101 bases
Score : 0
#135 Pathogenic (nssv3395205)
Location : 18,644,240 - 21,465,662 |
Size : 2,821,422 bases
Score : 0
#136 Pathogenic (22q11.21)
Location : 18,644,541 - 21,465,659 |
Size : 2,821,118 bases
Score : 0
#137 Pathogenic (nssv3395292)
Location : 18,648,855 - 21,465,662 |
Size : 2,816,807 bases
Score : 0
#138 Pathogenic (22q11.21)
Location : 18,648,866 - 21,465,659 |
Size : 2,816,793 bases
Score : 1
#139 Pathogenic (nssv579959)
Location : 18,650,674 - 21,455,556 |
Size : 2,804,882 bases
Score : 1
#140 Pathogenic (nssv579968)
Location : 18,660,552 - 21,455,556 |
Size : 2,795,004 bases
Score : 1
#141 Pathogenic (22q11.21)
Location : 18,661,698 - 21,457,610 |
Size : 2,795,912 bases
Score : 0
#142 Pathogenic (nssv1602233)
Location : 18,661,723 - 21,464,119 |
Size : 2,802,396 bases
Score : 0
#143 Pathogenic (nssv1415377)
Location : 18,661,723 - 21,461,811 |
Size : 2,800,088 bases
Score : 0
#144 Pathogenic (nssv579973)
Location : 18,661,723 - 21,440,514 |
Size : 2,778,791 bases
Score : 2
#145 Pathogenic (nssv583171)
Location : 18,661,723 - 21,440,514 |
Size : 2,778,791 bases
Score : 0
#146 Pathogenic (nssv579982)
Location : 18,706,000 - 21,440,514 |
Size : 2,734,514 bases
Score : 1
#147 Pathogenic (nssv582962)
Location : 18,706,000 - 21,440,514 |
Size : 2,734,514 bases
Score : 0
#148 Pathogenic (nssv583242)
Location : 19,058,828 - 21,440,514 |
Size : 2,381,686 bases
Score : 0
#149 Pathogenic (nssv584206)
Location : 18,628,146 - 21,440,515 |
Size : 2,812,369 bases
Score : 0
#150 Pathogenic (nssv13644826)
Location : 18,650,663 - 21,440,455 |
Size : 2,789,792 bases
Score : 0
#151 Pathogenic (22q11.21)
Location : 18,718,027 - 21,326,012 |
Size : 2,607,985 bases
Score : 0
#152 Pathogenic (22q11.21)
Location : 19,183,999 - 21,416,024 |
Size : 2,232,025 bases
Score : 1
#153 Pathogenic (22q11.21)
Location : 19,036,285 - 21,208,284 |
Size : 2,171,999 bases
Score : 1
Phenotype :
Schizophrenia
#154 Pathogenic (nssv13652101)
Location : 18,916,827 - 21,049,800 |
Size : 2,132,973 bases
Score : 0
#155 Pathogenic (22q11.21)
Location : 18,916,841 - 21,075,592 |
Size : 2,158,751 bases
Score : 0
#156 Pathogenic (22q11.21)
Location : 18,916,842 - 21,075,592 |
Size : 2,158,750 bases
Score : 1
#157 Pathogenic (nssv3397273)
Location : 18,916,827 - 21,041,014 |
Size : 2,124,187 bases
Score : 0
#158 Pathogenic (22q11.21)
Location : 18,916,841 - 21,011,216 |
Size : 2,094,375 bases
Score : 0
#159 Pathogenic (22q11.21)
Location : 18,916,841 - 21,033,371 |
Size : 2,116,530 bases
Score : 0
#160 Pathogenic (22q11.21)
Location : 18,916,842 - 21,033,401 |
Size : 2,116,559 bases
Score : 1
#161 Pathogenic (nssv580016)
Location : 18,919,941 - 21,025,713 |
Size : 2,105,772 bases
Score : 1
#162 Pathogenic (nssv580044)
Location : 18,938,160 - 20,996,250 |
Size : 2,058,090 bases
Score : 1
#163 Pathogenic (nssv579981)
Location : 18,706,000 - 21,025,713 |
Size : 2,319,713 bases
Score : 1
#164 Pathogenic (nssv575357)
Location : 18,706,000 - 21,025,713 |
Size : 2,319,713 bases
Score : 0
#165 Pathogenic (22q11.21)
Location : 18,644,790 - 21,041,014 |
Size : 2,396,224 bases
Score : 1
#166 Pathogenic (22q11.21)
Location : 18,916,841 - 20,767,095 |
Size : 1,850,254 bases
Score : 0
#167 Pathogenic (22q11.21)
Location : 19,336,597 - 21,208,828 |
Size : 1,872,231 bases
Score : 1
#168 Pathogenic (22q11.21)
Location : 18,916,841 - 20,716,903 |
Size : 1,800,062 bases
Score : 0
#169 Pathogenic (nssv579993)
Location : 18,890,270 - 20,659,606 |
Size : 1,769,336 bases
Score : 1
#170 Pathogenic (nssv706464)
Location : 18,894,834 - 20,659,606 |
Size : 1,764,772 bases
Score : 0
#171 Pathogenic (nssv580009)
Location : 18,919,941 - 20,708,934 |
Size : 1,788,993 bases
Score : 1
#172 Pathogenic (nssv582959)
Location : 18,919,941 - 20,659,606 |
Size : 1,739,665 bases
Score : 0
#173 Pathogenic (nssv579984)
Location : 18,706,000 - 20,659,606 |
Size : 1,953,606 bases
Score : 1
#174 Pathogenic (nssv1608137)
Location : 18,706,000 - 20,659,606 |
Size : 1,953,606 bases
Score : 0
#175 Pathogenic (nssv706339)
Location : 18,661,723 - 20,659,606 |
Size : 1,997,883 bases
Score : 0
#176 Pathogenic (Single allele)
Location : 18,475,384 - 23,764,120 |
Size : 5,288,736 bases
Score : 0
Phenotype :
DiGeorge syndrome
247 Decipher CNV overlap(s) (>= 70% only)
0 Benign CNV 118 Unknown CNV 11 Uncertain CNV 118 Pathogenic CNV
#1 : unknown
Location : 18,894,834 - 21,798,755
| Size : 2,903,921 bases
Patient Id : 280518
Gender : Inconnu
Phenotype :
Global developmental delay
#2 : unknown
Location : 18,896,971 - 21,798,755
| Size : 2,901,784 bases
Patient Id : 258265
Gender : Inconnu
Phenotype :
Cryptorchidism, Hypospadias, High palate, Macrocephaly, Posteriorly rotated ears, Low\-set ears, Prominent nasal bridge, Anteverted nares, Blepharophimosis, Abnormal heart morphology
#3 : pathogenic
Location : 18,916,841 - 21,800,797
| Size : 2,883,956 bases
Patient Id : 308797
Gender : Inconnu
#4 : pathogenic
Location : 18,916,841 - 21,800,797
| Size : 2,883,956 bases
Patient Id : 315022
Gender : Inconnu
Phenotype :
Ventricular septal defect, Delayed gross motor development, Mild short stature, Ventricular septal defect, Delayed gross motor development, Mild short stature
#5 : unknown
Location : 18,916,841 - 21,798,907
| Size : 2,882,066 bases
Patient Id : 301241
Gender : Inconnu
#6 : pathogenic
Location : 18,916,841 - 21,798,907
| Size : 2,882,066 bases
Patient Id : 327807
Gender : Inconnu
#7 : pathogenic
Location : 18,916,841 - 21,798,907
| Size : 2,882,066 bases
Patient Id : 330955
Gender : Inconnu
Phenotype :
Global developmental delay, Abnormal facial shape, Basal ganglia calcification
#8 : pathogenic
Location : 18,916,841 - 21,798,907
| Size : 2,882,066 bases
Patient Id : 356289
Gender : Inconnu
Phenotype :
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
#9 : pathogenic
Location : 18,919,475 - 21,798,907
| Size : 2,879,432 bases
Patient Id : 332755
Gender : Inconnu
#10 : pathogenic
Location : 18,919,941 - 21,798,755
| Size : 2,878,814 bases
Patient Id : 280739
Gender : Inconnu
Phenotype :
Global developmental delay
#11 : pathogenic
Location : 18,919,941 - 21,798,755
| Size : 2,878,814 bases
Patient Id : 292126
Gender : Inconnu
Phenotype :
Microretrognathia, Delayed speech and language development, Global developmental delay, Joint laxity, Failure to thrive, Laryngotracheomalacia, Feeding difficulties
#12 : unknown
Location : 18,919,941 - 21,801,661
| Size : 2,881,720 bases
Patient Id : 260264
Gender : Inconnu
#13 : pathogenic
Location : 18,919,941 - 21,801,661
| Size : 2,881,720 bases
Patient Id : 287304
Gender : Inconnu
Phenotype :
Global developmental delay, Conotruncal defect, Anal atresia, Postnatal growth retardation, Aplasia\/Hypoplasia of the thymus
#14 : pathogenic
Location : 18,933,882 - 21,825,079
| Size : 2,891,197 bases
Patient Id : 400971
Gender : Inconnu
Phenotype :
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
#15 : unknown
Location : 18,896,971 - 21,926,261
| Size : 3,029,290 bases
Patient Id : 276506
Gender : Inconnu
#16 : pathogenic
Location : 19,004,734 - 21,798,907
| Size : 2,794,173 bases
Patient Id : 332210
Gender : Inconnu
Phenotype :
Delayed speech and language development, Hypotonia, Global developmental delay, Delayed gross motor development, Congenital muscular torticollis, Delayed fine motor development, Fetal pyelectasis
#17 : unknown
Location : 19,023,823 - 21,798,755
| Size : 2,774,932 bases
Patient Id : 1640
Gender : Inconnu
Phenotype :
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
#18 : unknown
Location : 18,847,960 - 21,661,435
| Size : 2,813,475 bases
Patient Id : 257931
Gender : Inconnu
Phenotype :
Ventricular septal defect, Mild global developmental delay
#19 : pathogenic
Location : 18,933,882 - 21,676,849
| Size : 2,742,967 bases
Patient Id : 400935
Gender : Inconnu
Phenotype :
Abnormality of the pinna, Strabismus, Postaxial hand polydactyly, Obesity, Pes planus, Frontal bossing, EEG abnormality, Recurrent infections, Inverted nipples, Pain insensitivity, Finger clinodactyly
#20 : pathogenic
Location : 18,933,882 - 21,676,849
| Size : 2,742,967 bases
Patient Id : 400938
Gender : Inconnu
Phenotype :
Sparse and thin eyebrow, Hypotelorism, Premature birth, Short stature, Sparse hair
#21 : pathogenic
Location : 18,626,107 - 21,798,907
| Size : 3,172,800 bases
Patient Id : 421079
Gender : Inconnu
Phenotype :
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
#22 : unknown
Location : 18,641,467 - 21,798,705
| Size : 3,157,238 bases
Patient Id : 264397
Gender : Inconnu
#23 : pathogenic
Location : 18,644,789 - 21,798,907
| Size : 3,154,118 bases
Patient Id : 282275
Gender : Inconnu
Phenotype :
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
#24 : pathogenic
Location : 18,644,789 - 21,800,797
| Size : 3,156,008 bases
Patient Id : 332216
Gender : Inconnu
Phenotype :
Hypocalcemia
#25 : pathogenic
Location : 18,648,865 - 21,800,797
| Size : 3,151,932 bases
Patient Id : 299771
Gender : Inconnu
#26 : unknown
Location : 18,651,613 - 21,798,755
| Size : 3,147,142 bases
Patient Id : 271451
Gender : Inconnu
#27 : unknown
Location : 18,661,747 - 21,808,979
| Size : 3,147,232 bases
Patient Id : 273941
Gender : Inconnu
#28 : unknown
Location : 18,661,747 - 21,808,979
| Size : 3,147,232 bases
Patient Id : 282271
Gender : Inconnu
#29 : pathogenic
Location : 18,661,747 - 21,808,979
| Size : 3,147,232 bases
Patient Id : 284518
Gender : Inconnu
#30 : pathogenic
Location : 18,729,743 - 21,705,113
| Size : 2,975,370 bases
Patient Id : 384171
Gender : Inconnu
Phenotype :
Abnormal social behavior, Fragile teeth, Overweight, Abnormal social behavior, Fragile teeth, Overweight
#31 : pathogenic
Location : 18,661,698 - 21,722,313
| Size : 3,060,615 bases
Patient Id : 331184
Gender : Inconnu
Phenotype :
Abnormality of the face, Low\-set ears, Asymmetry of the mouth, Abnormality of cardiovascular system morphology
#32 : pathogenic
Location : 18,890,161 - 21,540,347
| Size : 2,650,186 bases
Patient Id : 288045
Gender : Inconnu
Phenotype :
Plagiocephaly, Ventricular septal defect, Frontal bossing, Subdural hemorrhage
#33 : unknown
Location : 18,894,634 - 21,505,558
| Size : 2,610,924 bases
Patient Id : 265995
Gender : Inconnu
Phenotype :
Stereotypy, Obesity
#34 : unknown
Location : 18,894,634 - 21,505,558
| Size : 2,610,924 bases
Patient Id : 280514
Gender : Inconnu
Phenotype :
Global developmental delay
#35 : unknown
Location : 18,894,834 - 21,505,417
| Size : 2,610,583 bases
Patient Id : 280486
Gender : Inconnu
Phenotype :
Global developmental delay
#36 : pathogenic
Location : 18,894,834 - 21,505,417
| Size : 2,610,583 bases
Patient Id : 294634
Gender : Inconnu
Phenotype :
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
#37 : pathogenic
Location : 18,894,834 - 21,505,417
| Size : 2,610,583 bases
Patient Id : 404125
Gender : Inconnu
#38 : unknown
Location : 18,894,834 - 21,505,417
| Size : 2,610,583 bases
Patient Id : 250908
Gender : Inconnu
#39 : pathogenic
Location : 18,894,834 - 21,505,417
| Size : 2,610,583 bases
Patient Id : 366775
Gender : Inconnu
Phenotype :
Ptosis, Delayed speech and language development, Global developmental delay, Brain atrophy
#40 : unknown
Location : 18,894,863 - 21,505,387
| Size : 2,610,524 bases
Patient Id : 265315
Gender : Inconnu
#41 : unknown
Location : 18,894,863 - 21,505,387
| Size : 2,610,524 bases
Patient Id : 267255
Gender : Inconnu
#42 : unknown
Location : 18,894,863 - 21,505,387
| Size : 2,610,524 bases
Patient Id : 277688
Gender : Inconnu
#43 : unknown
Location : 18,894,864 - 21,505,388
| Size : 2,610,524 bases
Patient Id : 285366
Gender : Inconnu
#44 : unknown
Location : 18,894,864 - 21,505,388
| Size : 2,610,524 bases
Patient Id : 293644
Gender : Inconnu
Phenotype :
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
#45 : pathogenic
Location : 18,661,698 - 21,661,435
| Size : 2,999,737 bases
Patient Id : 287971
Gender : Inconnu
Phenotype :
Hirsutism, Triphalangeal thumb, Abnormal sacrum morphology
#46 : pathogenic
Location : 18,661,698 - 21,661,435
| Size : 2,999,737 bases
Patient Id : 331010
Gender : Inconnu
Phenotype :
Growth abnormality
#47 : pathogenic
Location : 18,661,698 - 21,661,435
| Size : 2,999,737 bases
Patient Id : 331294
Gender : Inconnu
Phenotype :
Abnormal ventricular septum morphology, Abnormal aortic arch morphology
#48 : pathogenic
Location : 18,661,698 - 21,661,435
| Size : 2,999,737 bases
Patient Id : 331317
Gender : Inconnu
Phenotype :
Generalized hypotonia, Premature birth, Generalized hypotonia, Premature birth
#49 : pathogenic
Location : 18,661,698 - 21,661,435
| Size : 2,999,737 bases
Patient Id : 331351
Gender : Inconnu
Phenotype :
Abnormality of cardiovascular system morphology, Abnormality of cardiovascular system morphology
#50 : unknown
Location : 18,661,723 - 21,704,632
| Size : 3,042,909 bases
Patient Id : 293850
Gender : Inconnu
#51 : pathogenic
Location : 18,847,960 - 21,499,494
| Size : 2,651,534 bases
Patient Id : 331301
Gender : Inconnu
Phenotype :
Polyhydramnios, Abnormal aortic morphology
#52 : pathogenic
Location : 18,876,604 - 21,499,494
| Size : 2,622,890 bases
Patient Id : 289903
Gender : Inconnu
Phenotype :
Congenital hypothyroidism, Unilateral deafness
#53 : pathogenic
Location : 18,877,522 - 21,505,417
| Size : 2,627,895 bases
Patient Id : 332406
Gender : Inconnu
#54 : pathogenic
Location : 18,877,786 - 21,462,353
| Size : 2,584,567 bases
Patient Id : 304086
Gender : Inconnu
Phenotype :
Global developmental delay
#55 : unknown
Location : 18,877,786 - 21,462,353
| Size : 2,584,567 bases
Patient Id : 327576
Gender : Inconnu
Phenotype :
Renal agenesis, Hypertelorism, Cupped ear, Hypotonia, Hiatus hernia, Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, Nasogastric tube feeding
#56 : unknown
Location : 18,877,786 - 21,462,353
| Size : 2,584,567 bases
Patient Id : 327630
Gender : Inconnu
#57 : unknown
Location : 18,884,837 - 21,465,661
| Size : 2,580,824 bases
Patient Id : 275295
Gender : Inconnu
#58 : pathogenic
Location : 18,889,038 - 21,464,119
| Size : 2,575,081 bases
Patient Id : 259106
Gender : Inconnu
Phenotype :
High palate, Global developmental delay, Abnormal heart morphology, Fragile nails, Sparse scalp hair, Alopecia of scalp, Abnormality of limb bone morphology
#59 : pathogenic
Location : 18,889,038 - 21,464,119
| Size : 2,575,081 bases
Patient Id : 287518
Gender : Inconnu
Phenotype :
Deeply set eye, Delayed speech and language development, Palmoplantar keratoderma, Talipes, Polymicrogyria, Generalized\-onset seizure, Hemiplegia, Sleep disturbance, Large earlobe, Severe global developmental delay
#60 : unknown
Location : 18,889,038 - 21,479,979
| Size : 2,590,941 bases
Patient Id : 266768
Gender : Inconnu
Phenotype :
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
#61 : unknown
Location : 18,894,634 - 21,464,260
| Size : 2,569,626 bases
Patient Id : 269045
Gender : Inconnu
#62 : pathogenic
Location : 18,894,634 - 21,464,260
| Size : 2,569,626 bases
Patient Id : 278276
Gender : Inconnu
Phenotype :
Aggressive behavior, Stereotypy, Delayed speech and language development, Global developmental delay, Mild postnatal growth retardation, Repetitive compulsive behavior, Abnormal ventricular septum morphology
#63 : uncertain
Location : 18,894,819 - 21,468,411
| Size : 2,573,592 bases
Patient Id : 288246
Gender : Inconnu
Phenotype :
Global developmental delay
#64 : unknown
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 260279
Gender : Inconnu
Phenotype :
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
#65 : unknown
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 268048
Gender : Inconnu
#66 : unknown
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 269041
Gender : Inconnu
Phenotype :
Abnormality of the face, Autism
#67 : unknown
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 271896
Gender : Inconnu
Phenotype :
Autism, Intellectual disability, Obesity, Ventricular septal defect, Scoliosis
#68 : unknown
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 276051
Gender : Inconnu
#69 : pathogenic
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 292121
Gender : Inconnu
Phenotype :
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
#70 : unknown
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 324223
Gender : Inconnu
#71 : pathogenic
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 391211
Gender : Inconnu
#72 : pathogenic
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 409200
Gender : Inconnu
#73 : pathogenic
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 324553
Gender : Inconnu
Phenotype :
Microcephaly, Seizure, Gastroesophageal reflux
#74 : pathogenic
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 340106
Gender : Inconnu
Phenotype :
Velopharyngeal insufficiency, Strabismus, Intellectual disability, mild, Abnormal facial shape, Type II diabetes mellitus
#75 : pathogenic
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 363853
Gender : Inconnu
Phenotype :
Tetralogy of Fallot, Talipes equinovarus
#76 : pathogenic
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 366857
Gender : Inconnu
#77 : pathogenic
Location : 18,894,834 - 21,464,119
| Size : 2,569,285 bases
Patient Id : 386027
Gender : Inconnu
#78 : unknown
Location : 18,895,186 - 21,463,936
| Size : 2,568,750 bases
Patient Id : 2213
Gender : Inconnu
Phenotype :
Tetralogy of Fallot, Meningocele
#79 : pathogenic
Location : 18,895,226 - 21,462,353
| Size : 2,567,127 bases
Patient Id : 301139
Gender : Inconnu
Phenotype :
Renal cyst, Cleft palate, Delayed speech and language development, Recurrent respiratory infections
#80 : pathogenic
Location : 18,646,834 - 21,661,435
| Size : 3,014,601 bases
Patient Id : 288268
Gender : Inconnu
Phenotype :
Global developmental delay, Global developmental delay
#81 : pathogenic
Location : 18,646,834 - 21,661,435
| Size : 3,014,601 bases
Patient Id : 331247
Gender : Inconnu
Phenotype :
Tetralogy of Fallot
#82 : pathogenic
Location : 18,646,834 - 21,661,435
| Size : 3,014,601 bases
Patient Id : 331570
Gender : Inconnu
Phenotype :
Intellectual disability, Abnormal facial shape, Hypocalcemia
#83 : pathogenic
Location : 18,706,021 - 21,561,491
| Size : 2,855,470 bases
Patient Id : 308404
Gender : Inconnu
#84 : unknown
Location : 18,765,108 - 21,540,317
| Size : 2,775,209 bases
Patient Id : 282618
Gender : Inconnu
#85 : unknown
Location : 18,844,631 - 21,462,353
| Size : 2,617,722 bases
Patient Id : 327635
Gender : Inconnu
#86 : pathogenic
Location : 18,844,631 - 21,462,353
| Size : 2,617,722 bases
Patient Id : 360833
Gender : Inconnu
Phenotype :
Double outlet right ventricle, Double outlet right ventricle, Double outlet right ventricle
#87 : pathogenic
Location : 18,847,960 - 21,441,944
| Size : 2,593,984 bases
Patient Id : 290047
Gender : Inconnu
Phenotype :
Psychosis, Intellectual disability, Global developmental delay, Short stature
#88 : pathogenic
Location : 18,875,829 - 21,441,944
| Size : 2,566,115 bases
Patient Id : 289626
Gender : Inconnu
Phenotype :
Behavioral abnormality, Intellectual disability
#89 : pathogenic
Location : 18,875,829 - 21,441,944
| Size : 2,566,115 bases
Patient Id : 289655
Gender : Inconnu
Phenotype :
Behavioral abnormality, Intellectual disability, Behavioral abnormality, Intellectual disability
#90 : pathogenic
Location : 18,875,829 - 21,441,944
| Size : 2,566,115 bases
Patient Id : 331204
Gender : Inconnu
Phenotype :
Abnormal heart morphology
#91 : uncertain
Location : 18,876,604 - 21,441,944
| Size : 2,565,340 bases
Patient Id : 290024
Gender : Inconnu
Phenotype :
Behavioral abnormality, Intellectual disability
#92 : pathogenic
Location : 18,876,604 - 21,441,944
| Size : 2,565,340 bases
Patient Id : 331443
Gender : Inconnu
Phenotype :
Intellectual disability
#93 : pathogenic
Location : 18,890,161 - 21,441,944
| Size : 2,551,783 bases
Patient Id : 288305
Gender : Inconnu
Phenotype :
Micrognathia, Inlet ventricular septal defect
#94 : pathogenic
Location : 18,890,161 - 21,441,944
| Size : 2,551,783 bases
Patient Id : 289267
Gender : Inconnu
Phenotype :
Intellectual disability, Hyperreflexia, Infantile axial hypotonia, Intellectual disability, Hyperreflexia, Infantile axial hypotonia
#95 : pathogenic
Location : 18,890,161 - 21,441,944
| Size : 2,551,783 bases
Patient Id : 290180
Gender : Inconnu
Phenotype :
Global developmental delay, Global developmental delay
#96 : pathogenic
Location : 18,890,161 - 21,441,944
| Size : 2,551,783 bases
Patient Id : 331290
Gender : Inconnu
Phenotype :
Bifid uvula, Global developmental delay
#97 : pathogenic
Location : 18,890,161 - 21,441,944
| Size : 2,551,783 bases
Patient Id : 331356
Gender : Inconnu
#98 : pathogenic
Location : 18,890,161 - 21,441,944
| Size : 2,551,783 bases
Patient Id : 331525
Gender : Inconnu
Phenotype :
Micropenis, Intellectual disability
#99 : uncertain
Location : 18,890,161 - 21,440,515
| Size : 2,550,354 bases
Patient Id : 289563
Gender : Inconnu
Phenotype :
Psychosis, Intellectual disability
#100 : unknown
Location : 18,890,210 - 21,445,924
| Size : 2,555,714 bases
Patient Id : 270691
Gender : Inconnu
Phenotype :
Narrow mouth, Blepharophimosis, Proportionate short stature, Short stature
#101 : pathogenic
Location : 18,893,860 - 21,414,945
| Size : 2,521,085 bases
Patient Id : 294062
Gender : Inconnu
Phenotype :
High palate, Microretrognathia, Myopia, Hallux valgus, Thoracic scoliosis
#102 : unknown
Location : 18,894,619 - 21,440,656
| Size : 2,546,037 bases
Patient Id : 263249
Gender : Inconnu
Phenotype :
Abnormality of the face, Cognitive impairment
#103 : uncertain
Location : 18,894,819 - 21,440,515
| Size : 2,545,696 bases
Patient Id : 332658
Gender : Inconnu
Phenotype :
Mild global developmental delay
#104 : unknown
Location : 18,894,819 - 21,440,515
| Size : 2,545,696 bases
Patient Id : 301550
Gender : Inconnu
Phenotype :
Hypotelorism, Highly arched eyebrow, Rudimentary postaxial polydactyly of hands, Moderate global developmental delay
#105 : unknown
Location : 18,894,863 - 21,440,484
| Size : 2,545,621 bases
Patient Id : 268981
Gender : Inconnu
#106 : unknown
Location : 18,894,863 - 21,440,484
| Size : 2,545,621 bases
Patient Id : 271024
Gender : Inconnu
#107 : pathogenic
Location : 18,894,863 - 21,440,484
| Size : 2,545,621 bases
Patient Id : 293121
Gender : Inconnu
#108 : pathogenic
Location : 18,894,863 - 21,440,484
| Size : 2,545,621 bases
Patient Id : 294066
Gender : Inconnu
#109 : pathogenic
Location : 18,910,247 - 21,409,634
| Size : 2,499,387 bases
Patient Id : 303619
Gender : Inconnu
Phenotype :
Microcephaly, Broad forehead, Global developmental delay, Rheumatoid arthritis, Ventricular septal defect, Abnormal facial shape, Clinodactyly of the 4th toe, Cerebral palsy
#110 : unknown
Location : 18,914,688 - 21,461,788
| Size : 2,547,100 bases
Patient Id : 293851
Gender : Inconnu
#111 : unknown
Location : 18,919,741 - 21,440,655
| Size : 2,520,914 bases
Patient Id : 250577
Gender : Inconnu
Phenotype :
Hypertelorism, Abnormality of the pinna, Telecanthus, Crumpled ear, Thin ear helix
#112 : unknown
Location : 18,919,741 - 21,440,655
| Size : 2,520,914 bases
Patient Id : 262934
Gender : Inconnu
Phenotype :
Coarse facial features, Secondary amenorrhea, Intellectual disability, Abnormal heart morphology, Abnormality of dental morphology
#113 : unknown
Location : 18,919,881 - 21,440,574
| Size : 2,520,693 bases
Patient Id : 275001
Gender : Inconnu
Phenotype :
Hypertrophic cardiomyopathy, Anal atresia, Hemivertebrae
#114 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 294233
Gender : Inconnu
Phenotype :
Hearing impairment, Cognitive impairment
#115 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 349735
Gender : Inconnu
Phenotype :
Hypocalcemia
#116 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 265254
Gender : Inconnu
#117 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 354940
Gender : Inconnu
#118 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 355003
Gender : Inconnu
Phenotype :
Intellectual disability, Intellectual disability
#119 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 359219
Gender : Inconnu
Phenotype :
Intellectual disability
#120 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 359236
Gender : Inconnu
Phenotype :
Velopharyngeal insufficiency, Laryngeal web
#121 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 366439
Gender : Inconnu
#122 : uncertain
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 366562
Gender : Inconnu
Phenotype :
Cardiomyopathy
#123 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 394776
Gender : Inconnu
#124 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 412399
Gender : Inconnu
#125 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 265518
Gender : Inconnu
#126 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 267014
Gender : Inconnu
#127 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 267667
Gender : Inconnu
#128 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 299976
Gender : Inconnu
Phenotype :
Cognitive impairment
#129 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 299978
Gender : Inconnu
Phenotype :
Delayed speech and language development, Global developmental delay, Arachnoid cyst
#130 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 300530
Gender : Inconnu
Phenotype :
Cognitive impairment
#131 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 300967
Gender : Inconnu
Phenotype :
Global developmental delay
#132 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 301143
Gender : Inconnu
Phenotype :
Intellectual disability, Intellectual disability
#133 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 304864
Gender : Inconnu
Phenotype :
Hypotonia, Nasal speech, Cognitive impairment, Hypotonia, Nasal speech, Cognitive impairment
#134 : uncertain
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 306933
Gender : Inconnu
#135 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 350694
Gender : Inconnu
#136 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 269935
Gender : Inconnu
#137 : uncertain
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 306934
Gender : Inconnu
#138 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 326501
Gender : Inconnu
Phenotype :
Intellectual disability, Abnormality of the voice, Recurrent upper respiratory tract infections
#139 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 326844
Gender : Inconnu
Phenotype :
Cleft palate, Hypothyroidism, Obesity, Cognitive impairment, Cleft palate, Hypothyroidism, Obesity, Cognitive impairment
#140 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 338676
Gender : Inconnu
Phenotype :
Single umbilical artery, Polyhydramnios, Ventricular septal defect, Single umbilical artery, Polyhydramnios, Ventricular septal defect
#141 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 339129
Gender : Inconnu
Phenotype :
Cleft palate, Neonatal hypotonia, Intrauterine growth retardation
#142 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 339283
Gender : Inconnu
Phenotype :
Specific learning disability
#143 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 339352
Gender : Inconnu
Phenotype :
Language impairment
#144 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 339849
Gender : Inconnu
Phenotype :
Global developmental delay, Neonatal hypotonia
#145 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 340051
Gender : Inconnu
Phenotype :
Hypertelorism, Growth delay
#146 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 340590
Gender : Inconnu
Phenotype :
Specific learning disability
#147 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 346743
Gender : Inconnu
Phenotype :
Velopharyngeal insufficiency, Neonatal hypotonia
#148 : uncertain
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 366621
Gender : Inconnu
#149 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 262079
Gender : Inconnu
#150 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 413831
Gender : Inconnu
#151 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 269991
Gender : Inconnu
#152 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 349448
Gender : Inconnu
Phenotype :
Intellectual disability
#153 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 275011
Gender : Inconnu
Phenotype :
Vesicoureteral reflux, Narrow mouth, High palate, Intellectual disability, Nasal speech, Talipes equinovarus
#154 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 275466
Gender : Inconnu
Phenotype :
Narrow mouth, Intellectual disability, mild, Microtia
#155 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 276092
Gender : Inconnu
Phenotype :
Microcephaly, Talipes equinovarus, Moderate global developmental delay, Rectal fistula
#156 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 280548
Gender : Inconnu
Phenotype :
Plagiocephaly, Intrauterine growth retardation, Mild global developmental delay
#157 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 280849
Gender : Inconnu
Phenotype :
Intellectual disability, moderate
#158 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 286709
Gender : Inconnu
Phenotype :
Pachygyria, Intellectual disability, moderate, Pachygyria, Intellectual disability, moderate
#159 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 270971
Gender : Inconnu
#160 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 273521
Gender : Inconnu
Phenotype :
Renal agenesis, Postaxial hand polydactyly
#161 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 263156
Gender : Inconnu
#162 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 263159
Gender : Inconnu
#163 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 287583
Gender : Inconnu
Phenotype :
Behavioral abnormality, Absent speech
#164 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 293479
Gender : Inconnu
Phenotype :
Delayed speech and language development
#165 : uncertain
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 306948
Gender : Inconnu
#166 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 306999
Gender : Inconnu
#167 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 307482
Gender : Inconnu
Phenotype :
Global developmental delay
#168 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 307490
Gender : Inconnu
Phenotype :
Hypocalcemia, Cognitive impairment
#169 : unknown
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 308537
Gender : Inconnu
#170 : uncertain
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 323732
Gender : Inconnu
Phenotype :
Atrial septal defect, HP:0011398
#171 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 367139
Gender : Inconnu
Phenotype :
Polyhydramnios, Abnormal facial shape, Hypocalcemia, Polyhydramnios, Abnormal facial shape, Hypocalcemia
#172 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 351597
Gender : Inconnu
#173 : pathogenic
Location : 18,919,941 - 21,440,514
| Size : 2,520,573 bases
Patient Id : 389899
Gender : Inconnu
#174 : unknown
Location : 18,988,952 - 22,115,034
| Size : 3,126,082 bases
Patient Id : 249602
Gender : Inconnu
Phenotype :
Hypomimic face, Wide nasal bridge, Delayed speech and language development, Joint laxity, Pes planus, 2\-3 toe syndactyly
#175 : pathogenic
Location : 19,023,803 - 21,540,347
| Size : 2,516,544 bases
Patient Id : 331623
Gender : Inconnu
#176 : pathogenic
Location : 18,641,743 - 21,561,492
| Size : 2,919,749 bases
Patient Id : 339412
Gender : Inconnu
#177 : pathogenic
Location : 18,706,021 - 21,540,317
| Size : 2,834,296 bases
Patient Id : 314903
Gender : Inconnu
#178 : unknown
Location : 18,706,022 - 21,505,388
| Size : 2,799,366 bases
Patient Id : 276235
Gender : Inconnu
Phenotype :
Abnormality of the face
#179 : unknown
Location : 18,706,022 - 21,505,387
| Size : 2,799,365 bases
Patient Id : 258620
Gender : Inconnu
#180 : pathogenic
Location : 18,729,943 - 21,505,417
| Size : 2,775,474 bases
Patient Id : 337998
Gender : Inconnu
Phenotype :
Omphalocele, Abnormal left ventricle morphology, Omphalocele, Abnormal left ventricle morphology
#181 : unknown
Location : 18,896,971 - 21,382,953
| Size : 2,485,982 bases
Patient Id : 1645
Gender : Inconnu
Phenotype :
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
#182 : unknown
Location : 18,896,971 - 21,382,953
| Size : 2,485,982 bases
Patient Id : 248268
Gender : Inconnu
#183 : unknown
Location : 18,896,971 - 21,382,953
| Size : 2,485,982 bases
Patient Id : 248269
Gender : Inconnu
#184 : unknown
Location : 18,896,971 - 21,382,953
| Size : 2,485,982 bases
Patient Id : 250066
Gender : Inconnu
Phenotype :
Cleft palate, Arterial tortuosity, Cleft palate, Arterial tortuosity
#185 : unknown
Location : 18,896,971 - 21,382,953
| Size : 2,485,982 bases
Patient Id : 253239
Gender : Inconnu
#186 : unknown
Location : 18,896,971 - 21,382,953
| Size : 2,485,982 bases
Patient Id : 253461
Gender : Inconnu
Phenotype :
Intellectual disability, moderate, Intellectual disability, moderate
#187 : unknown
Location : 18,896,971 - 21,377,825
| Size : 2,480,854 bases
Patient Id : 2184
Gender : Inconnu
Phenotype :
Macrocephaly, Abnormality of vision, Tapered finger, Intellectual disability, Truncal obesity
#188 : unknown
Location : 18,896,971 - 21,379,903
| Size : 2,482,932 bases
Patient Id : 262821
Gender : Inconnu
#189 : unknown
Location : 18,896,971 - 21,367,944
| Size : 2,470,973 bases
Patient Id : 271877
Gender : Inconnu
#190 : unknown
Location : 18,896,971 - 21,379,958
| Size : 2,482,987 bases
Patient Id : 248600
Gender : Inconnu
Phenotype :
Intellectual disability
#191 : unknown
Location : 18,896,971 - 21,379,958
| Size : 2,482,987 bases
Patient Id : 253475
Gender : Inconnu
#192 : unknown
Location : 18,896,971 - 21,382,953
| Size : 2,485,982 bases
Patient Id : 258632
Gender : Inconnu
#193 : unknown
Location : 18,896,971 - 21,382,904
| Size : 2,485,933 bases
Patient Id : 261259
Gender : Inconnu
#194 : unknown
Location : 18,896,971 - 21,368,002
| Size : 2,471,031 bases
Patient Id : 250154
Gender : Inconnu
#195 : unknown
Location : 18,896,971 - 21,368,002
| Size : 2,471,031 bases
Patient Id : 250177
Gender : Inconnu
#196 : unknown
Location : 18,896,971 - 21,368,002
| Size : 2,471,031 bases
Patient Id : 253466
Gender : Inconnu
#197 : unknown
Location : 18,896,971 - 21,368,002
| Size : 2,471,031 bases
Patient Id : 253467
Gender : Inconnu
#198 : unknown
Location : 18,896,971 - 21,368,002
| Size : 2,471,031 bases
Patient Id : 253469
Gender : Inconnu
#199 : unknown
Location : 18,896,971 - 21,368,002
| Size : 2,471,031 bases
Patient Id : 253473
Gender : Inconnu
#200 : unknown
Location : 18,896,971 - 21,368,002
| Size : 2,471,031 bases
Patient Id : 253474
Gender : Inconnu
#201 : unknown
Location : 18,897,021 - 21,367,944
| Size : 2,470,923 bases
Patient Id : 281926
Gender : Inconnu
Phenotype :
Intellectual disability, Abnormal facial shape
#202 : pathogenic
Location : 18,909,727 - 21,388,639
| Size : 2,478,912 bases
Patient Id : 307423
Gender : Inconnu
Phenotype :
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
#203 : unknown
Location : 18,919,941 - 21,379,958
| Size : 2,460,017 bases
Patient Id : 282723
Gender : Inconnu
Phenotype :
Pierre\-Robin sequence, Ventricular septal defect
#204 : unknown
Location : 18,919,941 - 21,379,958
| Size : 2,460,017 bases
Patient Id : 282761
Gender : Inconnu
Phenotype :
Abnormal facial shape, Polymicrogyria, Severe global developmental delay
#205 : pathogenic
Location : 18,919,941 - 21,379,958
| Size : 2,460,017 bases
Patient Id : 287217
Gender : Inconnu
Phenotype :
Otitis media, Recurrent upper respiratory tract infections, Abnormality of the upper urinary tract
#206 : uncertain
Location : 18,919,941 - 21,379,958
| Size : 2,460,017 bases
Patient Id : 366649
Gender : Inconnu
Phenotype :
Congenital malformation of the great arteries
#207 : pathogenic
Location : 18,967,370 - 21,462,353
| Size : 2,494,983 bases
Patient Id : 362163
Gender : Inconnu
Phenotype :
Inguinal hernia, Atopic dermatitis, Ventricular septal defect, Atrial septal defect, Psychomotor retardation
#208 : unknown
Location : 18,628,047 - 21,540,317
| Size : 2,912,270 bases
Patient Id : 266833
Gender : Inconnu
#209 : unknown
Location : 18,628,047 - 21,561,492
| Size : 2,933,445 bases
Patient Id : 276670
Gender : Inconnu
#210 : unknown
Location : 18,661,698 - 21,540,347
| Size : 2,878,649 bases
Patient Id : 337210
Gender : Inconnu
Phenotype :
Mild global developmental delay
#211 : unknown
Location : 18,661,747 - 21,540,317
| Size : 2,878,570 bases
Patient Id : 267553
Gender : Inconnu
#212 : pathogenic
Location : 18,661,747 - 21,540,317
| Size : 2,878,570 bases
Patient Id : 285197
Gender : Inconnu
#213 : unknown
Location : 18,661,747 - 21,505,387
| Size : 2,843,640 bases
Patient Id : 256677
Gender : Inconnu
#214 : unknown
Location : 18,661,747 - 21,505,387
| Size : 2,843,640 bases
Patient Id : 270862
Gender : Inconnu
#215 : pathogenic
Location : 19,023,823 - 21,464,119
| Size : 2,440,296 bases
Patient Id : 295570
Gender : Inconnu
Phenotype :
Generalized hypotonia, Growth delay
#216 : unknown
Location : 19,023,823 - 21,440,514
| Size : 2,416,691 bases
Patient Id : 366798
Gender : Inconnu
#217 : unknown
Location : 18,626,107 - 21,465,662
| Size : 2,839,555 bases
Patient Id : 264979
Gender : Inconnu
#218 : pathogenic
Location : 18,644,789 - 21,465,662
| Size : 2,820,873 bases
Patient Id : 282278
Gender : Inconnu
Phenotype :
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
#219 : unknown
Location : 18,651,613 - 21,464,119
| Size : 2,812,506 bases
Patient Id : 260367
Gender : Inconnu
Phenotype :
Abnormality of the face, Psychosis, Intellectual disability
#220 : unknown
Location : 18,661,698 - 21,441,944
| Size : 2,780,246 bases
Patient Id : 256278
Gender : Inconnu
Phenotype :
Hypertelorism, Intellectual disability, Obesity, Short foot, Short palm, Hypertelorism, Intellectual disability, Obesity, Short foot, Short palm, Hypertelorism, Intellectual disability, Obesity, Short foot, Short palm
#221 : pathogenic
Location : 18,661,747 - 21,440,484
| Size : 2,778,737 bases
Patient Id : 285026
Gender : Inconnu
#222 : unknown
Location : 18,909,031 - 21,306,115
| Size : 2,397,084 bases
Patient Id : 256300
Gender : Inconnu
Phenotype :
Micrognathia, Abnormality of the eye, Proptosis, Abnormality of prenatal development or birth, Aortic regurgitation, Atrioventricular canal defect
#223 : unknown
Location : 19,023,623 - 21,383,104
| Size : 2,359,481 bases
Patient Id : 271757
Gender : Inconnu
Phenotype :
Narrow mouth, Long face, Mandibular prognathia, Hypomimic face, Abnormality of the pinna, Hyperactivity, Intellectual disability, Long foot, Proportionate short stature, Camptodactyly of finger
#224 : unknown
Location : 19,023,823 - 21,382,904
| Size : 2,359,081 bases
Patient Id : 266363
Gender : Inconnu
#225 : pathogenic
Location : 18,653,404 - 21,414,945
| Size : 2,761,541 bases
Patient Id : 291869
Gender : Inconnu
Phenotype :
Facial asymmetry, Micrognathia, Deeply set eye, Global developmental delay, Phimosis, Prominent metopic ridge, Deep palmar crease, HP:0007095
#226 : pathogenic
Location : 18,655,827 - 21,414,945
| Size : 2,759,118 bases
Patient Id : 305652
Gender : Inconnu
Phenotype :
Slender nose, Hypermetropia, Aggressive behavior, Constipation, Recurrent upper respiratory tract infections, Severe expressive language delay, Moderate global developmental delay
#227 : pathogenic
Location : 18,628,146 - 21,407,681
| Size : 2,779,535 bases
Patient Id : 333457
Gender : Inconnu
Phenotype :
Thoracic kyphosis, Mild global developmental delay
#228 : unknown
Location : 18,648,854 - 21,269,224
| Size : 2,620,370 bases
Patient Id : 284001
Gender : Inconnu
#229 : unknown
Location : 18,894,863 - 21,081,289
| Size : 2,186,426 bases
Patient Id : 279698
Gender : Inconnu
#230 : pathogenic
Location : 18,844,631 - 21,091,640
| Size : 2,247,009 bases
Patient Id : 277641
Gender : Inconnu
Phenotype :
Hypertelorism, Delayed speech and language development, Global developmental delay, Hypocalcemia, Hypertelorism, Delayed speech and language development, Global developmental delay, Hypocalcemia
#231 : unknown
Location : 18,894,834 - 21,032,298
| Size : 2,137,464 bases
Patient Id : 280510
Gender : Inconnu
Phenotype :
Global developmental delay
#232 : pathogenic
Location : 18,894,834 - 21,032,422
| Size : 2,137,588 bases
Patient Id : 285772
Gender : Inconnu
#233 : pathogenic
Location : 18,919,941 - 20,992,700
| Size : 2,072,759 bases
Patient Id : 299735
Gender : Inconnu
Phenotype :
Autistic behavior, Global developmental delay
#234 : pathogenic
Location : 18,919,941 - 20,992,700
| Size : 2,072,759 bases
Patient Id : 338915
Gender : Inconnu
Phenotype :
Cardiomyopathy
#235 : unknown
Location : 18,953,011 - 20,992,700
| Size : 2,039,689 bases
Patient Id : 280006
Gender : Inconnu
Phenotype :
Intellectual disability, moderate
#236 : pathogenic
Location : 18,150,178 - 21,445,183
| Size : 3,295,005 bases
Patient Id : 415202
Gender : Inconnu
#237 : pathogenic
Location : 18,919,941 - 20,942,862
| Size : 2,022,921 bases
Patient Id : 284134
Gender : Inconnu
Phenotype :
Intellectual disability, moderate
#238 : pathogenic
Location : 17,925,446 - 22,175,446
| Size : 4,250,000 bases
Patient Id : 395916
Gender : Inconnu
Phenotype :
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
#239 : unknown
Location : 18,648,854 - 21,058,888
| Size : 2,410,034 bases
Patient Id : 285305
Gender : Inconnu
Phenotype :
Delayed speech and language development, Motor delay
#240 : pathogenic
Location : 18,661,723 - 21,025,713
| Size : 2,363,990 bases
Patient Id : 328553
Gender : Inconnu
Phenotype :
Seizure, Seizure
#241 : pathogenic
Location : 18,661,723 - 21,025,713
| Size : 2,363,990 bases
Patient Id : 366443
Gender : Inconnu
Phenotype :
Delayed speech and language development, Global developmental delay, Ventricular septal defect, Abnormal facial shape
#242 : unknown
Location : 18,796,971 - 20,959,043
| Size : 2,162,072 bases
Patient Id : 253471
Gender : Inconnu
#243 : unknown
Location : 18,919,941 - 20,900,600
| Size : 1,980,659 bases
Patient Id : 278388
Gender : Inconnu
Phenotype :
Truncus arteriosus, Congenital malformation of the great arteries
#244 : pathogenic
Location : 18,916,841 - 20,717,655
| Size : 1,800,814 bases
Patient Id : 282277
Gender : Inconnu
Phenotype :
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
#245 : unknown
Location : 18,519,185 - 23,222,718
| Size : 4,703,533 bases
Patient Id : 249491
Gender : Inconnu
#246 : unknown
Location : 19,758,295 - 21,454,122
| Size : 1,695,827 bases
Patient Id : 249413
Gender : Inconnu
Phenotype :
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
#247 : unknown
Location : 18,661,747 - 20,659,576
| Size : 1,997,829 bases
Patient Id : 262415
Gender : Inconnu
5 Gene(s) in SFARI Database
0 DGV-Gold overlap(s) (>= 50% only)
1 DGV overlap(s) (>= 50% only)
DGV #1
Location : 20,470,598 - 21,462,724
| Size : 992,126 bases
17 Patient cases (>= 70% only)
18,661,722 - 21,505,418
Size : 2,843,696 bases
1 Reports
18,919,468 - 21,460,658
Size : 2,541,190 bases
85 Reports
18,919,468 - 21,452,548
Size : 2,533,080 bases
1 Reports
18,919,468 - 21,007,667
Size : 2,088,199 bases
1 Reports
18,919,468 - 21,456,772
Size : 2,537,304 bases
1 Reports
18,919,468 - 21,811,314
Size : 2,891,846 bases
2 Reports
18,919,468 - 21,798,834
Size : 2,879,366 bases
2 Reports
18,919,740 - 21,440,654
Size : 2,520,914 bases
7 Reports
18,919,741 - 21,440,655
Size : 2,520,914 bases
1 Reports
18,919,940 - 21,561,515
Size : 2,641,575 bases
1 Reports
18,919,940 - 21,440,515
Size : 2,520,575 bases
35 Reports
18,925,065 - 21,460,658
Size : 2,535,593 bases
1 Reports
18,974,511 - 21,460,658
Size : 2,486,147 bases
1 Reports
18,981,576 - 21,460,658
Size : 2,479,082 bases
1 Reports
18,984,342 - 21,460,658
Size : 2,476,316 bases
1 Reports
19,024,760 - 21,460,658
Size : 2,435,898 bases
3 Reports
19,029,600 - 21,440,515
Size : 2,410,915 bases
2 Reports
0 Controls (>= 70% only)
21 Gene(s) in PanelApp Database
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Medium | Infantile enterocolitis & monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Amber |
| High | 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 |
| High | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- NHS GMS - Expert Review Green |
| High | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- NHS GMS - Expert Review Green - Expert list |
| High | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Green |
| High | Inherited white matter disorders | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Green |
| Low | Arthrogryposis | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531 |
- Expert Review Red - Literature |
| High | Cerebellar hypoplasia | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Green - Literature |
| Medium | Childhood onset hereditary spastic paraplegia | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Amber |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- DD-Gene2Phenotype - Expert Review Green |
| High | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Green |
| Low | 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 |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- HIRA-related neurodevelopmental disorder |
- Expert Review Red - DD-Gene2Phenotype |
| Medium | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Neurodevelopmental disorder |
- Expert Review Amber - Literature |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Autism |
- Expert Review Red - SFARI |
||
| Low | Pain syndromes | Unknown |
- Congenital insensitivity to pain |
- Review - Literaure |
| Low | Paroxysmal central nervous system disorders | Unknown |
- Congenital insensitivity to pain |
- Expert Review Red - NHS GMS - London North GLH - Wessex and West Midlands GLH |
| Low | Hereditary neuropathy | BIALLELIC, autosomal or pseudoautosomal |
- NHS GMS - South West GLH - Expert Review Red - Expert Review |
|
| Low | Hereditary neuropathy or pain disorder | BIALLELIC, autosomal or pseudoautosomal |
- South West GLH - Expert Review Red - Expert Review - NHS GMS - NHS GMS - South West GLH |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Congenital adrenal hypoplasia | BIALLELIC, autosomal or pseudoautosomal |
- Familial glucocorticoid deficiency |
- Expert Review Red - Expert list |
| Low | Dilated Cardiomyopathy and conduction defects | BIALLELIC, autosomal or pseudoautosomal |
- South West GLH - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | 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 |
| High | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin Syndrome and Craniosynostosis |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| High | 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 |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin Syndrome and Craniosynostosis |
- DD-Gene2Phenotype - Expert Review Green |
| Medium | Clefting | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7, 617063 - MGORS7 |
- Expert Review Amber - Radboud University Medical Center, Nijmegen - Expert list |
| Low | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7 617063 |
- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7, 617063 |
- Next Generation Children Project - Expert Review Green - Expert list |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7, 617063 |
- Next Generation Children Project - Expert Review Green - Expert list |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7, 617063 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Genomic imprinting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Literature |
|
| Low | Familial Hirschsprung Disease | Unknown |
- HSCR - Hirschsprung s Disease risk |
- Expert Review Red - Literature |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Ketotic hypoglycaemia | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Green - Expert Review |
| High | 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 |
| High | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Green - Other |
| High | 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 |
| Low | 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 |
| Low | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
- Expert Review Red - PAGE DD-Gene2Phenotype |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
- DD-Gene2Phenotype - Expert Review Green |
| High | 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 |
| High | 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 |
| Low | Mitochondrial disorders | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Red - Expert Review |
| Medium | Cardiac arrhythmias - additional genes | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Amber - Expert Review |
| Low | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| Low | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| High | 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 |
| High | Acute rhabdomyolysis | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 |
- NHS GMS - Expert Review Green |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Autism |
- Expert Review Red - SFARI |
||
| High | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Hyperprolinemia, type I, OMIM - 239500 - hyperprolinemia type 1, MONDO:0009400 |
- Expert Review Green - Literature |
| High | 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 |
| Medium | 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 |
| Medium | 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 |
| Low | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | 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 |
| Medium | 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 |
| High | 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 |
| Low | Autism |
- Expert Review Red - SFARI |
||
| Low | Familial non syndromic congenital heart disease |
- Tetralogy of Fallot |
- Expert Review Red - Radboud University Medical Center, Nijmegen |
|
| High | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- 22Q11.2 DELETION SYNDROME |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| High | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- 22Q11.2 DELETION SYNDROME 188400 |
- DD-Gene2Phenotype - Expert Review Green |
| Low | Monogenic hearing loss |
- Expert |
||
| High | 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 |
| Medium | 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 |
| High | 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 |
| High | 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 |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Adult solid tumours cancer susceptibility | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Early-onset multinodular goiter and schwannomatosis |
- Expert Review Red - Literature |
| High | Familial tumours of the nervous system | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Expert Review Green - NHS GMS |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | 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 |
| High | Ichthyosis and erythrokeratoderma | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528 |
- Expert Review Green |
| High | Vici Syndrome and other autophagy disorders | BIALLELIC, autosomal or pseudoautosomal |
- CEDNIK - Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
- Expert Review Green - Literature |
| High | Palmoplantar keratodermas | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
- London North GLH - NHS GMS - Expert Review Green |
| High | 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 |
| Medium | 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 |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- CEDNIK SYNDROME 609528 |
- Expert Review Green - DD-Gene2Phenotype |
| High | 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 |
| High | 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 |
| High | 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 |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Familial non syndromic congenital heart disease |
- Tetralogy of Fallot (Tomita-Mitchell (2012) Physiol Genomics 44,518) |
- Expert Review Red - Radboud University Medical Center, Nijmegen |
|
| Low | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Bladder exstrophy plus |
- DD-Gene2Phenotype - Expert Review Red |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Arthrogryposis | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome 600920 |
- Expert Review Green - Radboud University Medical Center, Nijmegen - Literature |
| High | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome 600920 |
- NHS GMS - Expert Review Green - Radboud University Medical Center, Nijmegen - Expert list - |
| High | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- VAN DEN ENDE-GUPTA SYNDROME |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| Low | Rare syndromic craniosynostosis or isolated multisuture synostosis | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome |
- NHS GMS - Expert Review Red - Expert Review |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- VAN DEN ENDE-GUPTA SYNDROME 600920 |
- DD-Gene2Phenotype - Expert Review Green |
| High | Clefting | BIALLELIC, autosomal or pseudoautosomal |
- VAN DEN ENDE-GUPTA SYNDROME - VDEGS |
- Expert Review Green |
| Low | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome, 600920 |
- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome, 600920 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | 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 |
| High | 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 |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | 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 |
| High | Fetal hydrops | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome 10, 616564 |
- Eligibility statement prior genetic testing - Expert Review Green |
| Medium | Childhood solid tumours | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome 10 616564 - Schwannomatosis-2, susceptibility to 615670 |
- Expert Review Amber - NHS GMS |
| High | 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 |
| Low | Hypertrophic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- RASopathy-associated cardiomyopathy |
- Expert Review Red - Literature |
| Low | Autism |
- Expert Review Red - SFARI |
||
| Medium | 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 |
| High | Fetal anomalies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Fetal hydrops - Noonan syndrome 10, 616564 |
- Expert Review Green |
| High | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome |
- Expert Review Green - DD-Gene2Phenotype |
| High | 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 |
| High | 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 |
| High | 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 |
| High | Primary lymphoedema | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Schwannomatosis-2, susceptibility to 615670 - Noonan syndrome 10 616564 |
- Expert Review Green - Expert Review |
| High | 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 |
| High | Familial tumours of the nervous system | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- NHS GMS - Expert Review Green |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | White matter disorders and cerebral calcification - narrow panel | BIALLELIC, autosomal or pseudoautosomal |
- Global Cerebral Hypomyelination |
- Expert Review Red |
| Low | Inherited white matter disorders | BIALLELIC, autosomal or pseudoautosomal |
- Global Cerebral Hypomyelination |
- Illumina TruGenome Clinical Sequencing Services |
| High | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal |
- Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197 |
- Expert Review Green - NHS GMS - Wessex and West Midlands GLH |
| High | 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 |
| High | 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 |
| High | 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 |
| Medium | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182 |
- Expert Review Amber |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- SLC25A1-related Neurometabolic Disorder |
- DD-Gene2Phenotype - Expert Review Green |
| High | 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 |
| High | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Combined D-2- and L-2-hydroxyglutaric aciduria 615182 |
- Expert Review Green - Expert Review |
| High | 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 |
| Low | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Likely inborn error of metabolism - targeted testing not possible | Unknown |
- No OMIM phenotype |
- Expert Review Red |
| Low | Mitochondrial disorders |
- No OMIM phenotype |
- Radboud University Medical Center, Nijmegen |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | White matter disorders and cerebral calcification - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Brain calcifications |
- Expert Review Green - NHS GMS - Literature |
| Low | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- CLDN5-related neurodevelopmental disorder |
- Expert Review Red - DD-Gene2Phenotype |
| High | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- epilepsy, MONDO:0005027 |
- Expert Review Green - NHS GMS - Literature |
| High | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- intellectual disability, MONDO:0001071 |
- Expert Review Green - NHS GMS - Literature |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | 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 |
| High | 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 |
| Medium | 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 |
| High | 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 |
| High | 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 |