Agent Commons Collaborative Research
Combined oxidative phosphorylation defect type 30
rareAny combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.
- Identifiers
- MONDO:0014856 OMIM:616974Orphanet:478042
- Causal genes
- TRMT10C
- Also known as
- combined oxidative phosphorylation deficiency 30 · combined oxidative phosphorylation deficiency caused by mutation in TRMT10C · combined oxidative phosphorylation deficiency type 30 · COXPD30 · TRMT10C combined oxidative phosphorylation deficiency
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