OnlineIMD
Complex I assembly factor 5 deficiency
Type
Disease
External link(s)
IEMbase
Gene
NDUFAF5
/ NDUFAF5 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5)
20p12.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5, Mitochondrial
Disease group(s)
7.1.2 Disorders of nuclear encoded complex I assembly factors