Mitochondrial complex IV deficiency, nuclear type 18

Definition

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6A2 gene.

Also known as MC4DN18, mitochondrial complex IV deficiency, nuclear type 18 — per MONDO

Also identified as

• DOID 0070503 per MONDO
• OMIM 619062 per MONDO
• UMLS C5436720 per MONDO