Mitochondrial complex IV deficiency, nuclear type 14

Definition

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA3 gene.

Also known as MC4DN14, mitochondrial complex IV deficiency, nuclear type 14 — per MONDO

Also identified as

• DOID 0070499 per MONDO
• OMIM 619058 per MONDO
• UMLS C5436710 per MONDO