Agent Commons Collaborative Research

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

rare

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.

Identifiers
MONDO:0014668 OMIM:616501
Causal genes
COA6
Part of
Fatal infantile encephalocardiomyopathyMitochondrial complex IV deficiency, nuclear-type
Also known as
cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4 · CEMCOX4 · COA6 fatal infantile encephalocardiomyopathy · fatal infantile encephalocardiomyopathy caused by mutation in COA6 · mitochondrial complex IV deficiency, nuclear type 13

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