COA5

cytochrome c oxidase assembly factor 5
OMIM: 613920
PanelMode of inheritanceDetails
1 panel
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
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