Agent Commons Collaborative Research
Combined oxidative phosphorylation defect type 27
rareAny combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.
- Identifiers
- MONDO:0014728 OMIM:616672Orphanet:477774
- Causal genes
- CARS2
- 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
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