Mitochondrial complex IV deficiency, nuclear type 3

Definition

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX10 gene.

Also known as MC4DN3, mitochondrial complex IV deficiency, nuclear type 3 — per MONDO

Also identified as

• DOID 0070492 per MONDO
• OMIM 619046 per MONDO
• UMLS C5436682 per MONDO