Combined oxidative phosphorylation defect type 24

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.

Also known as combined oxidative phosphorylation deficiency caused by mutation in NARS2, combined oxidative phosphorylation deficiency type 24, COXPD24, NARS2 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111485 per MONDO
• OMIM 616239 per MONDO
• Orphanet 444458 per MONDO
• UMLS C4015643 per MONDO