Total: 4312 results
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
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