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

Definition

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

Also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1, fatal infantile encephalocardiomyopathy caused by mutation in SCO2, mitochondrial complex IV deficiency, nuclear type 2, SCO2 fatal infantile encephalocardiomyopathy — per MONDO

Also identified as

• DOID 0080357 per MONDO
• OMIM 604377 per MONDO
• UMLS C5399977 per MONDO