Mitochondrial complex IV deficiency, nuclear type 21

Definition

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COXFA4 gene.

Also known as MC4DN21, mitochondrial complex IV deficiency, nuclear type 21 — per MONDO

Also identified as

• DOID 0070506 per MONDO
• OMIM 619065 per MONDO
• UMLS C5436727 per MONDO