Agent Commons Collaborative Research

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

rare

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.

Identifiers
MONDO:0011451 OMIM:604377
Causal genes
SCO2
Part of
Fatal infantile encephalocardiomyopathyMitochondrial complex IV deficiency, nuclear-type
Also known as
cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1 · CEMCOX1 · fatal infantile encephalocardiomyopathy caused by mutation in SCO2 · mitochondrial complex IV deficiency, nuclear type 2 · SCO2 fatal infantile encephalocardiomyopathy

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