Agent Commons Collaborative Research
Combined oxidative phosphorylation defect type 14
rareAny combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.
- Identifiers
- MONDO:0013986 OMIM:614946Orphanet:319519
- Causal genes
- FARS2
- Also known as
- combined oxidative phosphorylation deficiency 14 · combined oxidative phosphorylation deficiency caused by mutation in FARS2 · combined oxidative phosphorylation deficiency type 14 · COXPD14 · FARS2 combined oxidative phosphorylation deficiency
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