NDUFB3

NADH:ubiquinone oxidoreductase subunit B3
OMIM: 603839
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 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Mitochondrial complex I deficiency, 252010, Isolated complex I deficiency
R-numbers: R353
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 25, 618246
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex I deficiency, Mitochondrial complex I deficiency, 252010
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 25, 618246