cytochrome c oxidase assembly factor 5
OMIM: 613920
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Isolated complex IV deficiency, Mitochondrial complex IV deficiency, 220110, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), syndromic HCM, ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3