Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B

Definition

Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.

Also known as ATP5F1A mitochondrial complex deficiency, MC5DN4B, mitochondrial complex deficiency caused by mutation in ATP5F1A — per MONDO

Also identified as

• DOID 0070462 per MONDO
• OMIM 615228 per MONDO
• UMLS C3808899 per MONDO