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

Definition

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

Also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4, COA6 fatal infantile encephalocardiomyopathy, fatal infantile encephalocardiomyopathy caused by mutation in COA6, mitochondrial complex IV deficiency, nuclear type 13 — per MONDO

Also identified as

• DOID 0080360 per MONDO
• OMIM 616501 per MONDO
• UMLS C4225304 per MONDO