3118
(4.0%)

TNNI3

Sensorineural hearing impairment

cardiomyopathy, familial restrictive, 1 (OMIM) dilated cardiomyopathy 2A (OMIM) dilated cardiomyopathy 1FF (OMIM) hypertrophic cardiomyopathy 7 (OMIM) Familial isolated dilated cardiomyopathy (ORDO) Familial isolated restrictive cardiomyopathy (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous

3118
(4.0%)

TPP1

Progressive visual loss

neuronal ceroid lipofuscinosis 2 (OMIM) autosomal recessive spinocerebellar ataxia 7 (OMIM) Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

NHLRC1

Visual loss

Lafora disease (OMIM) Lafora disease (ORDO)

Autosomal recessive inheritance Heterogeneous

3118
(4.0%)

EPM2A

Visual loss

Lafora disease (OMIM) Lafora disease (ORDO)

Autosomal recessive inheritance Heterogeneous

3118
(4.0%)

KCND3

Urinary incontinence

spinocerebellar ataxia type 19/22 (OMIM) Brugada syndrome 9 (OMIM) Brugada syndrome (ORDO) Spinocerebellar ataxia type 19/22 (ORDO)

Autosomal dominant inheritance

3118
(4.0%)

HMBS

Urinary retention

acute intermittent porphyria (OMIM) Acute intermittent porphyria (ORDO)

Autosomal dominant inheritance

3118
(4.0%)

CDKN1B

Abnormality of the urinary system

multiple endocrine neoplasia type 4 (OMIM) Multiple endocrine neoplasia type 4 (ORDO) Multiple endocrine neoplasia type 1 (ORDO)

Autosomal dominant inheritance

3118
(4.0%)

LMNB1

Urinary urgency

adult-onset autosomal dominant demyelinating leukodystrophy (OMIM) Adult-onset autosomal dominant leukodystrophy (ORDO)

Autosomal dominant inheritance

3118
(4.0%)

PSEN2

Sensorineural hearing impairment

Alzheimer disease 4 (OMIM) dilated cardiomyopathy 1V (OMIM) Early-onset autosomal dominant Alzheimer disease (ORDO) Familial isolated dilated cardiomyopathy (ORDO)

Autosomal dominant inheritance

3118
(4.0%)

ATXN7

Slow saccadic eye movements

spinocerebellar ataxia type 7 (OMIM) Spinocerebellar ataxia type 7 (ORDO)

Autosomal dominant inheritance Genetic anticipation with paternal anticipation bias

3118
(4.0%)

SF3B1

Abnormality of refraction

myelodysplastic syndrome (OMIM) Uveal melanoma (ORDO) Acquired idiopathic sideroblastic anemia (ORDO)

Somatic mutation

3118
(4.0%)

ATXN10

Urinary urgency

spinocerebellar ataxia type 10 (OMIM) Spinocerebellar ataxia type 10 (ORDO)

Autosomal dominant inheritance Genetic anticipation

3118
(4.0%)

ALDOB

Proximal tubulopathy

hereditary fructose intolerance (OMIM) Hereditary fructose intolerance (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

ACAT1

Agitation

beta-ketothiolase deficiency (OMIM) Beta-ketothiolase deficiency (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

HADH

Pigmentary retinopathy

3-hydroxyacyl-CoA dehydrogenase deficiency (OMIM) hyperinsulinemic hypoglycemia, familial, 4 (OMIM) Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency (ORDO)

Autosomal recessive inheritance Heterogeneous

3118
(4.0%)

CDKN2B

Retinopathy

Familial melanoma (ORDO) Multiple endocrine neoplasia type 1 (ORDO)

Autosomal dominant inheritance

3118
(4.0%)

TXNRD2

Recurrent urinary tract infections

glucocorticoid deficiency 5 (OMIM) Familial isolated dilated cardiomyopathy (ORDO) Familial glucocorticoid deficiency (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

GABRB3

Urinary incontinence

epilepsy, childhood absence, susceptibility to, 5 (OMIM) developmental and epileptic encephalopathy, 43 (OMIM) Lennox-Gastaut syndrome (ORDO) Childhood absence epilepsy (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous

3118
(4.0%)

NDUFA13

Hearing impairment

mitochondrial complex 1 deficiency, nuclear type 28 (OMIM) Leigh syndrome with leukodystrophy (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

GLRX5

Strabismus

spasticity-ataxia-gait anomalies syndrome (OMIM) sideroblastic anemia 3 (OMIM) Childhood-onset spasticity with hyperglycinemia (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

LIPT1

Hearing impairment

lipoyl transferase 1 deficiency (OMIM) Leigh syndrome with leukodystrophy (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

MMUT

Renal insufficiency

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (OMIM) Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORDO) Vitamin B12-unresponsive methylmalonic acidemia type mut- (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

SLC25A15

Chorioretinal atrophy

ornithine translocase deficiency (OMIM) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

KCNQ2

Deeply set eye

seizures, benign familial neonatal, 1 (OMIM) developmental and epileptic encephalopathy, 7 (OMIM) Benign familial neonatal epilepsy (ORDO) Benign familial infantile epilepsy (ORDO) KCNQ2-related epileptic encephalopathy (ORDO)

Autosomal dominant inheritance Heterogeneous

3118
(4.0%)

KCNJ10

Abnormal renal tubule morphology

Pendred syndrome (OMIM) autosomal recessive nonsyndromic deafness 4 (OMIM) EAST syndrome (OMIM) EAST syndrome (ORDO) Pendred syndrome (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

HNF1A

Polyuria

type 2 diabetes mellitus (OMIM) hepatic adenomas, familial (OMIM) nonpapillary renal cell carcinoma (OMIM) IDDM 1 (OMIM) maturity-onset diabetes of the young type 3 (OMIM) type 1 diabetes mellitus 20 (OMIM) Hyperinsulinism due to HNF1A deficiency (ORDO) MODY (ORDO)

Autosomal dominant inheritance Heterogeneous

3118
(4.0%)

NDUFB8

Abnormal renal tubule morphology

mitochondrial complex 1 deficiency, nuclear type 32 (OMIM) Leigh syndrome with cardiomyopathy (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

SCN5A

Sensorineural hearing impairment

progressive familial heart block, type 1A (OMIM) (OMIM) Brugada syndrome 1 (OMIM) dilated cardiomyopathy 1E (OMIM) ventricular fibrillation, paroxysmal familial, type 1 (OMIM) long QT syndrome 3 (OMIM) sick sinus syndrome 1 (OMIM) atrial fibrillation, familial, 10 (OMIM) Romano-Ward syndrome (ORDO) Brugada syndrome (ORDO) Familial isolated dilated cardiomyopathy (ORDO) Familial progressive cardiac conduction defect (ORDO)

Autosomal dominant inheritance Heterogeneous Autosomal recessive inheritance

3118
(4.0%)

ARSA

Urinary incontinence

metachromatic leukodystrophy, juvenile form (OMIM) Metachromatic leukodystrophy, late infantile form (ORDO) Metachromatic leukodystrophy, juvenile form (ORDO) Metachromatic leukodystrophy, adult form (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

TRNV

Abnormal renal tubule morphology

MELAS syndrome (OMIM) Mitochondrial DNA-associated Leigh syndrome (ORDO)

Mitochondrial inheritance

3118
(4.0%)

SLC25A13

Cataract

citrullinemia, type II, adult-onset (OMIM) neonatal intrahepatic cholestasis due to citrin deficiency (OMIM) Citrullinemia type II (ORDO) Neonatal intrahepatic cholestasis due to citrin deficiency (ORDO)

Autosomal recessive inheritance

3118
(4.0%)

BCS1L

Hypogonadism

mitochondrial complex III deficiency nuclear type 1 (OMIM) Leigh syndrome (OMIM) Bjornstad syndrome (OMIM) gracile syndrome (OMIM) Björnstad syndrome (ORDO) GRACILE syndrome (ORDO)

Autosomal recessive inheritance Mitochondrial inheritance Heterogeneous