cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.
MONDO:0015487
fatal infantile encephalocardiomyopathy
is_a
CEMCOX1
related
SCO2 fatal infantile encephalocardiomyopathy
exact
cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1
exact
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
exact
fatal infantile encephalocardiomyopathy caused by mutation in SCO2
exact
mitochondrial complex IV deficiency, nuclear type 2
exact
SPBC119.06