/cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Rare Disease
MONDO:0011451
Also Known As
SCO2 fatal infantile encephalocardiomyopathycardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1fatal infantile encephalocardiomyopathy caused by mutation in SCO2mitochondrial complex IV deficiency, nuclear type 2CEMCOX1cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy
Definition
Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.
Patient-Friendly Information
Comprehensive, easy-to-understand information about this condition