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

Definition

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

Also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2, COX15 fatal infantile encephalocardiomyopathy, fatal infantile encephalocardiomyopathy caused by mutation in COX15, mitochondrial complex IV deficiency, nuclear type 6 — per MONDO

Also identified as

• DOID 0080358 per MONDO
• OMIM 615119 per MONDO
• UMLS C3554534 per MONDO