Mitochondrial complex IV deficiency, nuclear type 11

Definition

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX20 gene.

Also known as MC4DN11, mitochondrial complex IV deficiency, nuclear type 11 — per MONDO

Also identified as

• DOID 0070497 per MONDO
• OMIM 619054 per MONDO
• UMLS C5436694 per MONDO