MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
OMIM: 516003
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MITOCHONDRIAL
Phenotypes
MELAS SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, LEBER OPTIC ATROPHY, MITOCHONDRIAL COMPLEX I DEFICIENCY
R-numbers: R42
Signed-off version 1.2
MITOCHONDRIAL
Phenotypes
Leber's hereditary optic neuropathy
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
MITOCHONDRIAL
Phenotypes
LEBER OPTIC ATROPHY, MELAS SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, MITOCHONDRIAL COMPLEX I DEFICIENCY
R-numbers: R41, R42.2
Signed-off version 2.2
MITOCHONDRIAL
Phenotypes
Leber's hereditary optic neuropathy