Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 27
Definition
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.
Also known as CARS2 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 27, combined oxidative phosphorylation deficiency caused by mutation in CARS2, combined oxidative phosphorylation deficiency type 27, COXPD27 — per MONDO