3118
(4.0%)

MCCC2

Seborrheic dermatitis

3-methylcrotonyl-CoA carboxylase 2 deficiency (OMIM) 3-methylcrotonyl-CoA carboxylase deficiency (ORDO)

Autosomal recessive inheritance Heterogeneous

3118
(4.0%)

BAP1

Retinopathy

BAP1-related tumor predisposition syndrome (OMIM) Uveal melanoma (ORDO) Familial melanoma (ORDO)

Autosomal dominant inheritance

3118
(4.0%)

PDGFRA

Abnormality of the nervous system

polyps, multiple and recurrent inflammatory fibroid, gastrointestinal (OMIM) idiopathic hypereosinophilic syndrome (OMIM) Gastrointestinal stromal tumor (ORDO)

Autosomal dominant inheritance Somatic mutation Sporadic

3118
(4.0%)

CNGB3

Abnormal foveal morphology

achromatopsia 3 (OMIM) Progressive cone dystrophy (ORDO) Achromatopsia (ORDO) Stargardt disease (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

GTPBP3

Visual impairment

combined oxidative phosphorylation defect type 23 (OMIM) Combined oxidative phosphorylation defect type 23 (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

CHD2

Aggressive behavior

childhood onset epileptic encephalopathy (OMIM) Myoclonic-astastic epilepsy (ORDO) Lennox-Gastaut syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

3118
(4.0%)

PHKG2

Delayed speech and language development

glycogen storage disease IXc (OMIM) Glycogen storage disease due to liver phosphorylase kinase deficiency (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

ATP1A2

Sensorineural hearing impairment

alternating hemiplegia of childhood 1 (OMIM) migraine, familial hemiplegic, 2 (OMIM) Familial or sporadic hemiplegic migraine (ORDO)

Autosomal dominant inheritance Heterogeneous

3118
(4.0%)

ACAD9

Generalized hypotonia

acyl-CoA dehydrogenase 9 deficiency (OMIM) Acyl-CoA dehydrogenase 9 deficiency (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

CPOX

Depressivity

hereditary coproporphyria (OMIM) Hereditary coproporphyria (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

3118
(4.0%)

NNT

Recurrent urinary tract infections

glucocorticoid deficiency 4 (OMIM) Familial glucocorticoid deficiency (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

NDUFA2

Hearing impairment

mitochondrial complex 1 deficiency, nuclear type 13 (OMIM) Leigh syndrome with leukodystrophy (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

AVPR2

Megacystis

nephrogenic syndrome of inappropriate antidiuresis (OMIM) diabetes insipidus, nephrogenic, X-linked (OMIM) Nephrogenic diabetes insipidus (ORDO)

X-linked recessive inheritance Heterogeneous

3118
(4.0%)

MRAP

Recurrent urinary tract infections

glucocorticoid deficiency 2 (OMIM) Familial glucocorticoid deficiency (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

STAR

Recurrent urinary tract infections

congenital lipoid adrenal hyperplasia due to STAR deficency (OMIM) Familial glucocorticoid deficiency (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

NDUFA10

Hearing impairment

mitochondrial complex 1 deficiency, nuclear type 22 (OMIM) Leigh syndrome with leukodystrophy (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

SLC19A2

Cryptorchidism

thiamine-responsive megaloblastic anemia syndrome (OMIM) Thiamine-responsive megaloblastic anemia syndrome (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

TYR

Sensorineural hearing impairment

ocular albinism with congenital sensorineural deafness (OMIM) oculocutaneous albinism type 1A (OMIM) oculocutaneous albinism type 1B (OMIM) Oculocutaneous albinism type 1A (ORDO) Oculocutaneous albinism type 1B (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

FBP1

Irritability

fructose-1,6-bisphosphatase deficiency (OMIM) Fructose-1,6-bisphosphatase deficiency (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

MC1R

Hydrocephalus

oculocutaneous albinism type 2 (OMIM) Familial melanoma (ORDO) Large congenital melanocytic nevus (ORDO) Oculocutaneous albinism type 2 (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance