hg38 LOSS chr22-18894835-21798755

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

CNV-Hub AChro-Puce
Pathogenic

De novo or inherited from symptomatic parent

Inherited from asymptomatic parent

Unknown

CNV length of 1 Mb or more

Class

5

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

ISV²

XCNV³

ClassifyCNV ACMG⁴

AnnotSV ACMG⁵

ACMG criteria

ClassifyCNV

2A
+ 1

Complete overlap of an established HI gene/genomic region.

2H
+ 0.15

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

3C
+ 0.9

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

5B
-0.45

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

5D
+ 0.45

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

AnnotSV

2A
+ 1

Complete overlap of an established HI gene/genomic region.

3C
+ 0.9

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

5B
-0.45

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

5D
+ 0.45

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

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

ClinGen

0 benign CNV
0 likely benign CNV
5 uncertain CNV
0 likely pathogenic CNV
73 pathogenic CNV

70% Overlaps

Decipher

0 benign CNV
118 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 study⁶

10

Patient cases
70% Overlaps

1

Controls
70% Overlaps

Genes with pHaplo > 0.55⁷

13

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

Genes with pTriplo > 0.68⁷

15

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

Genes in SFARI

5

PRODH CLTCL1 TBX1 GNB1L LZTR1

Genes in OMIM

52 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

Delete and Recompute CNV

2 Microdeletion and microduplication syndromes from litterature (>= 70% only)

DGS/VCFS AD (22q11.2)
Location : 18,924,718 - 21,111,383 | Size : 2,186,665 bases

Cases :
Gottlieb_1998
McDermid_2002
Kaminsky_2011
Burnside_2015
Morrow_2018

Mean Coverage : 86 %

DGS/VCFS AC (22q11.2)
Location : 18,924,718 - 20,692,999 | Size : 1,768,281 bases

Cases :
Burnside_2015
Morrow_2018

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) :

Gene Score : 2

Is Not Syndromic

No EAGLE Score

Reports : 6

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

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

Disease : Distal 22q11.2 microdeletion syndrome

Source : Orphanet

Database :

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

Human Phenotype Ontology Show/Hide

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

MED15 NM_001003891.3 Whole gene - Size : 91,719 bases

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

Database :

DecipherGenomics OMIM:607372 GTEx Portal Human Protein Atlas Ensembl

DGCR2 NM_005137.3 Whole gene - Size : 86,172 bases

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

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.

UBE2L3 NM_003347.4 Whole gene - Size : 74,587 bases

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

Disease : Systemic lupus erythematosus

Source : Orphanet

Database :

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

Human Phenotype Ontology Show/Hide

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

GNB1L NM_053004.3 Whole gene - Size : 71,716 bases

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

Database :

DecipherGenomics PanelApp OMIM:610778 GTEx Portal Human Protein Atlas Ensembl

SFARI (Autism Database) :

Gene Score : 2

Is Not Syndromic

No EAGLE Score

Reports : 2

TXNRD2 NM_006440.5 Whole gene - Size : 66,303 bases

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

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.

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.

RTN4R NM_023004.6 Whole gene - Size : 41,831 bases

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

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.

CDC45 NM_003504.5 Whole gene - Size : 41,155 bases

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

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.

YPEL1 NM_013313.5 Whole gene - Size : 38,258 bases

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

Database :

DecipherGenomics OMIM:608082 GTEx Portal Human Protein Atlas Ensembl

CRKL NM_005207.4 Whole gene - Size : 36,340 bases

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

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.

HIC2 NM_015094.3 Whole gene - Size : 34,092 bases

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

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.

PPIL2 NM_014337.4 Whole gene - Size : 34,015 bases

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

Database :

DecipherGenomics OMIM:607588 GTEx Portal Human Protein Atlas Ensembl

SNAP29 NM_004782.4 Whole gene - Size : 32,207 bases

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

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.

DGCR8 NM_022720.7 Whole gene - Size : 31,656 bases

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

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.

UFD1 NM_005659.7 Whole gene - Size : 29,291 bases

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

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.

TBX1 NM_001379200.1 Whole gene - Size : 26,890 bases

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

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) :

No Gene Score

Is Syndromic

No EAGLE Score

Reports : 5

PRODH NM_016335.6 Whole gene - Size : 23,776 bases

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

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) :

Gene Score : 2

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) :

Gene Score : 1

Is Not Syndromic

No EAGLE Score

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.

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

ENSG00000290983
Size : 74,844 bases

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

ENSG00000283809
Size : 41,494 bases

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

ENSG00000287146
Size : 36,932 bases

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

ENSG00000290981
Size : 40,684 bases

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

PI4KAP2
Size : 44,533 bases

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

COMT
Size : 28,604 bases

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

ENSG00000290950
Size : 22,118 bases

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

SMPD4P1
Size : 23,539 bases

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

ENSG00000291240
Size : 24,325 bases

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

FAM230B
Size : 24,398 bases

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

FAM230H
Size : 24,052 bases

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

ENSG00000284294
Size : 11,330 bases

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

ENSG00000280418
Size : 7,578 bases

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

CELSR1P1
Size : 8,665 bases

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

ENSG00000284874
Size : 7,552 bases

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

RTL10
Size : 8,758 bases

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

ENSG00000289960
Size : 12,447 bases

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

ENSG00000236540
Size : 12,539 bases

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

PRODHLP
Size : 13,456 bases

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

FAM230G
Size : 15,567 bases

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

USP41
Size : 13,630 bases

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

ENSG00000277971
Size : 17,379 bases

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

POM121L4P
Size : 9,009 bases

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

LINC01637
Size : 7,590 bases

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

ENSG00000285314
Size : 18,659 bases

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

THAP7-AS1
Size : 8,456 bases

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

ENSG00000226872
Size : 12,763 bases

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

ENSG00000290799
Size : 9,769 bases

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

LRRC74B
Size : 18,222 bases

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

ENSG00000284665
Size : 9,936 bases

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

ENSG00000291044
Size : 19,302 bases

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

ENSG00000197210
Size : 9,844 bases

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

ENSG00000290961
Size : 10,395 bases

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

ENSG00000207751
Size : 18,053 bases

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

ENSG00000283583
Size : 630 bases

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

ENSG00000271275
Size : 457 bases

Location : 18,997,138 - 18,997,595

ENSG00000283366
Size : 153 bases

Location : 19,014,353 - 19,014,506

ENSG00000270393
Size : 873 bases

Location : 19,018,043 - 19,018,916

FAM246C
Size : 1,718 bases

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

CA15P1
Size : 3,000 bases

Location : 19,031,564 - 19,034,564

Y_RNA
Size : 111 bases

Location : 19,045,256 - 19,045,367

DGCR11
Size : 2,213 bases

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

ENSG00000237347
Size : 711 bases

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

ENSG00000281530
Size : 802 bases

Location : 19,061,041 - 19,061,843

ENSG00000223461
Size : 2,974 bases

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

ENSG00000272682
Size : 4,140 bases

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

TSSK1A
Size : 767 bases

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

ENSG00000289481
Size : 798 bases

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

LINC01311
Size : 1,456 bases

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

ENSG00000286367
Size : 3,681 bases

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

ENSG00000230194
Size : 296 bases

Location : 19,238,443 - 19,238,739

ENSG00000251940
Size : 93 bases

Location : 19,249,873 - 19,249,966

KRT18P62
Size : 1,286 bases

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

RN7SL168P
Size : 278 bases

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

UFD1-AS1
Size : 2,212 bases

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

ENSG00000273300
Size : 426 bases

Location : 19,454,179 - 19,454,605

ENSG00000273212
Size : 459 bases

Location : 19,456,503 - 19,456,962

ENSG00000287652
Size : 2,197 bases

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

LINC00895
Size : 1,636 bases

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

ENSG00000230485
Size : 2,824 bases

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

ENSG00000225007
Size : 532 bases

Location : 19,667,023 - 19,667,555

RPL7AP70
Size : 800 bases

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

ENSG00000232926
Size : 681 bases

Location : 19,887,289 - 19,887,970

ENSG00000289946
Size : 5,837 bases

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

MIR4761
Size : 81 bases

Location : 19,963,753 - 19,963,834

ENSG00000268292
Size : 1,153 bases

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

Metazoa_SRP
Size : 249 bases

Location : 20,070,716 - 20,070,965

MIR3618
Size : 87 bases

Location : 20,085,746 - 20,085,833

MIR1306
Size : 84 bases

Location : 20,086,058 - 20,086,142

ENSG00000243762
Size : 1,054 bases

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

MIR6816
Size : 65 bases

Location : 20,114,686 - 20,114,751

SNORA77B
Size : 124 bases

Location : 20,126,402 - 20,126,526

CCDC188
Size : 2,639 bases

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

LINC02891
Size : 6,189 bases

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

LINC00896
Size : 2,144 bases

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

MIR1286
Size : 77 bases

Location : 20,249,134 - 20,249,211

ENSG00000273343
Size : 630 bases

Location : 20,318,119 - 20,318,749

ENSG00000273139
Size : 1,104 bases

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

ENSG00000235578
Size : 1,162 bases

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

ENSG00000287446
Size : 5,629 bases

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

RNU6-225P
Size : 102 bases

Location : 20,416,797 - 20,416,899

ENSG00000215493
Size : 1,702 bases

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

RNY1P9
Size : 108 bases

Location : 20,475,203 - 20,475,311

Y_RNA
Size : 110 bases

Location : 20,481,158 - 20,481,268

RN7SL812P
Size : 278 bases

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

KRT18P5
Size : 1,290 bases

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

ENSG00000236003
Size : 1,800 bases

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

CCDC74BP1
Size : 4,722 bases

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

IGLL4P
Size : 132 bases

Location : 20,632,619 - 20,632,751

SLC9A3P2
Size : 2,020 bases

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

ABHD17AP4
Size : 3,148 bases

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

ENSG00000290982
Size : 1,286 bases

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

BCRP5
Size : 972 bases

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

TMEM191A
Size : 3,492 bases

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

TMEM191A
Size : 2,483 bases

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

ENSG00000272600
Size : 2,008 bases

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

ENSG00000272829
Size : 882 bases

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

ENSG00000284060
Size : 6,558 bases

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

TUBA3FP
Size : 6,099 bases

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

MIR649
Size : 96 bases

Location : 21,034,176 - 21,034,272

P2RX6P
Size : 2,674 bases

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

TUBA3GP
Size : 4,635 bases

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

BCRP2
Size : 3,829 bases

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

POM121L7P
Size : 2,403 bases

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

E2F6P2
Size : 747 bases

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

ENSG00000234503
Size : 1,983 bases

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

FAM247A
Size : 177 bases

Location : 21,203,454 - 21,203,631

ENSG00000283145
Size : 378 bases

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

E2F6P3
Size : 742 bases

Location : 21,268,161 - 21,268,903

POM121L8P
Size : 1,280 bases

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

BCRP6
Size : 3,826 bases

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

ENSG00000237407
Size : 1,984 bases

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

PPP1R26P5
Size : 3,663 bases

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

LINC01651
Size : 3,504 bases

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

FAM246A
Size : 698 bases

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

ENSG00000226534
Size : 1,881 bases

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

Metazoa_SRP
Size : 319 bases

Location : 21,379,382 - 21,379,701

RN7SKP63
Size : 300 bases

Location : 21,389,191 - 21,389,491

ENSG00000252020
Size : 142 bases

Location : 21,389,796 - 21,389,938

Metazoa_SRP
Size : 317 bases

Location : 21,396,273 - 21,396,590

Metazoa_SRP
Size : 316 bases

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

TMEM191C
Size : 4,846 bases

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

ENSG00000252143
Size : 142 bases

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

RN7SKP221
Size : 300 bases

Location : 21,545,344 - 21,545,644

Metazoa_SRP
Size : 319 bases

Location : 21,555,138 - 21,555,457

CCDC116
Size : 4,613 bases

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

ENSG00000273342
Size : 440 bases

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

MIR301B
Size : 77 bases

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

ENSG00000284630
Size : 3,210 bases

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

ENSG00000284651
Size : 53 bases

Location : 21,661,242 - 21,661,295

ENSG00000284654
Size : 117 bases

Location : 21,661,476 - 21,661,593

ENSG00000284621
Size : 70 bases

Location : 21,661,859 - 21,661,929

ENSG00000272954
Size : 429 bases

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

ENSG00000286365
Size : 1,252 bases

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

RN7SL280P
Size : 287 bases

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

ENSG00000286127
Size : 6,660 bases

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

RNA5SP493
Size : 90 bases

Location : 21,792,434 - 21,792,524

Score : 0

Mean Coverage : 72 %

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

Mean Coverage : 74 %

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

Patient Id : 262415
Gender : Inconnu

Mean Coverage : 72 %

5 Gene(s) in SFARI Database

PRODH SFARI Location : 18,912,777 - 18,936,553 | Size : 23,776 bases
Whole gene

Is Syndromic !

Gene Score : 2
Reports : 6

CLTCL1 SFARI Location : 19,179,473 - 19,291,719 | Size : 112,246 bases
Whole gene

No data about Syndromicity

Gene Score : 2
Reports : 6

TBX1 SFARI Location : 19,756,703 - 19,783,593 | Size : 26,890 bases
Whole gene

Is Syndromic !

Reports : 5

GNB1L SFARI Location : 19,783,223 - 19,854,939 | Size : 71,716 bases
Whole gene

No data about Syndromicity

Gene Score : 2
Reports : 2

LZTR1 SFARI Location : 20,982,269 - 20,999,032 | Size : 16,763 bases
Whole gene

No data about Syndromicity

Gene Score : 1
Reports : 14

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

Mean Coverage : 51 %

10 Patient cases (>= 70% only)

18,178,955 - 21,151,129
Size : 2,972,174 bases
1 Reports

nssv3587378
Location : 18339129 - 21108435 | Size : 2769306 bases

Mean Coverage : 78 %

22 Gene(s) in PanelApp Database

PI4KA PanelApp Whole gene - Size : 151,726 bases

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

HIRA PanelApp Whole gene - Size : 116,752 bases

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

CLTCL1 PanelApp Whole gene - Size : 112,246 bases

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

GNB1L PanelApp Whole gene - Size : 71,716 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Autism			- Expert Review Red - SFARI

TXNRD2 PanelApp Whole gene - Size : 66,303 bases

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

CDC45 PanelApp Whole gene - Size : 41,155 bases

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

ARVCF PanelApp Whole gene - Size : 46,927 bases

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

TANGO2 PanelApp Whole gene - Size : 50,150 bases

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

MAPK1 PanelApp Exons 5->9 / 9 - Size : 108,023 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- MAPK1-related Neurodevelopmental Disorder	- DD-Gene2Phenotype - Expert Review Green
Medium	Growth failure in early childhood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Noonan syndrome 13, OMIM:619087	- Expert Review Amber - Expert Review
High	Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Global developmental delay - Intellectual disability - Behavioral abnormality - Growth delay - Abnormality of the face - Abnormality of the neck - Abnormality of the cardiovascular system - Abnormality of the skin	- Expert Review Green - Literature

PRODH PanelApp Whole gene - Size : 23,776 bases

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

TBX1 PanelApp Whole gene - Size : 26,890 bases

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

COMT PanelApp Whole gene - Size : 28,604 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Low	Familial Hirschsprung Disease	Unknown	- HSCR - Hirschsprung s Disease risk	- Expert Review Red - Literature

DGCR8 PanelApp Whole gene - Size : 31,656 bases

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

SNAP29 PanelApp Whole gene - Size : 32,207 bases

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

CRKL PanelApp Whole gene - Size : 36,340 bases

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

SCARF2 PanelApp Whole gene - Size : 13,242 bases

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

SERPIND1 PanelApp Whole gene - Size : 13,607 bases

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

LZTR1 PanelApp Whole gene - Size : 16,763 bases

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

SLC25A1 PanelApp Whole gene - Size : 3,158 bases

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

MRPL40 PanelApp Whole gene - Size : 3,530 bases

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

CLDN5 PanelApp Whole gene - Size : 4,521 bases

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

GP1BB PanelApp Whole gene - Size : 1,232 bases

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

ClassifyCNV ACMG Score

Pathogenic

ClassifyCNV ACMG Criteria

2A
+ 1

Complete overlap of an established HI gene/genomic region.

2H
+ 0.15

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

3C
+ 0.9

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

5B
-0.45

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

5D
+ 0.45

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

AnnotSV Score

Pathogenic

AnnotSV ACMG Criteria

2A
+ 1

Complete overlap of an established HI gene/genomic region.

3C
+ 0.9

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

5B
-0.45

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

5D
+ 0.45

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

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

CNV-Hub AChro-PucePathogenic

AChro-Puce Criteria taken into account 1

2 Major

2 Minor

4 Major

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

5B -0.45

5D + 0.45

AnnotSV

2A + 1

3C + 0.9

5B -0.45

5D + 0.45

Diseases :

ClinGen

Decipher

DGV-Gold

0

0

DGV

0

1

Coe & Al study 6

10

1

Genes with pHaplo > 0.55 7

13

Genes with pTriplo > 0.68 7

15

Genes in SFARI

5

Genes in OMIM

52

Sources and references

2 Microdeletion and microduplication syndromes from litterature (>= 70% only)

DGS/VCFS AD (22q11.2) Location : 18,924,718 - 21,111,383 | Size : 2,186,665 bases

DGS/VCFS AC (22q11.2) Location : 18,924,718 - 20,692,999 | Size : 1,768,281 bases

52 OMIM Gene overlap(s)

Download genes as .csv

PI4KA NM_058004.4 Whole gene - Size : 151,726 bases

Disease : Bilateral perisylvian polymicrogyria

Source : Orphanet

Database :

Human Phenotype Ontology Show/Hide

HIRA NM_003325.4 Whole gene - Size : 116,752 bases

Disease : 22q11.2 deletion syndrome

Source : Orphanet

Database :

Human Phenotype Ontology Show/Hide

CLTCL1 NM_007098.4 Whole gene - Size : 112,246 bases

Disease : Congenital insensitivity to pain with severe intellectual disability

Source : Orphanet

Database :

Human Phenotype Ontology Show/Hide

SFARI (Autism Database) :

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

Disease : Distal 22q11.2 microdeletion syndrome

Source : Orphanet

Database :

Human Phenotype Ontology Show/Hide

MED15 NM_001003891.3 Whole gene - Size : 91,719 bases

Database :

DGCR2 NM_005137.3 Whole gene - Size : 86,172 bases

Database :

Human Phenotype Ontology Show/Hide

CNV-Hub AChro-Puce
Pathogenic

AChro-Puce Criteria taken into account¹

ISV²

XCNV³

ClassifyCNV ACMG⁴

AnnotSV ACMG⁵

2A
+ 1

2H
+ 0.15

3C
+ 0.9

5B
-0.45

5D
+ 0.45

2A
+ 1

3C
+ 0.9

5B
-0.45

5D
+ 0.45

Coe & Al study⁶

Genes with pHaplo > 0.55⁷

Genes with pTriplo > 0.68⁷

DGS/VCFS AD (22q11.2)
Location : 18,924,718 - 21,111,383 | Size : 2,186,665 bases

DGS/VCFS AC (22q11.2)
Location : 18,924,718 - 20,692,999 | Size : 1,768,281 bases