Mitochondrial complex IV deficiency, nuclear type 4

Definition

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SCO1 gene.

Also known as MC4DN4, mitochondrial complex IV deficiency, nuclear type 4 — per MONDO

Also identified as

• DOID 0070493 per MONDO
• OMIM 619048 per MONDO
• UMLS C5436683 per MONDO