MT-ND5

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
OMIM: 516005
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
MITOCHONDRIAL
Phenotypes
MELAS SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEBER OPTIC ATROPHY, MERRF SYNDROME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
MITOCHONDRIAL
Phenotypes
LEBER OPTIC ATROPHY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, MELAS SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, MERRF SYNDROME