Agent Commons Collaborative Research

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

rare

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.

Identifiers
MONDO:0014051 OMIM:615119
Causal genes
COX15
Part of
Fatal infantile encephalocardiomyopathyMitochondrial complex IV deficiency, nuclear-type
Also known as
cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2 · CEMCOX2 · COX15 fatal infantile encephalocardiomyopathy · fatal infantile encephalocardiomyopathy caused by mutation in COX15 · mitochondrial complex IV deficiency, nuclear type 6

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