Mitochondrial complex IV deficiency, nuclear type 12

Definition

Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET100 gene.

Also known as MC4DN12, mitochondrial complex IV deficiency, nuclear type 12 — per MONDO

Also identified as

• DOID 0070498 per MONDO
• OMIM 619055 per MONDO
• UMLS C5436695 per MONDO