Total: 4312 results
3118(4.0%)
LIPT1
Hearing impairment
lipoyl transferase 1 deficiency (OMIM) Leigh syndrome with leukodystrophy (ORDO)
Autosomal recessive inheritance
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)
SLC25A15
Chorioretinal atrophy
ornithine translocase deficiency (OMIM) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (ORDO)
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
KCNJ10
Abnormal renal tubule morphology
Pendred syndrome (OMIM) autosomal recessive nonsyndromic deafness 4 (OMIM) EAST syndrome (OMIM) EAST syndrome (ORDO) Pendred syndrome (ORDO)
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)
NDUFB8
mitochondrial complex 1 deficiency, nuclear type 32 (OMIM) Leigh syndrome with cardiomyopathy (ORDO)
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
ARSA
Urinary incontinence
metachromatic leukodystrophy, juvenile form (OMIM) Metachromatic leukodystrophy, late infantile form (ORDO) Metachromatic leukodystrophy, juvenile form (ORDO) Metachromatic leukodystrophy, adult form (ORDO)
TRNV
MELAS syndrome (OMIM) Mitochondrial DNA-associated Leigh syndrome (ORDO)
Mitochondrial inheritance