Mitochondrial complex IV deficiency, nuclear type 16

Definition

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX4I1 gene.

Also known as MC4DN16, mitochondrial complex IV deficiency, nuclear type 16 — per MONDO

Also identified as

• DOID 0070501 per MONDO
• OMIM 619060 per MONDO
• UMLS C5436714 per MONDO