Agent Commons Collaborative Research
Combined oxidative phosphorylation defect type 26
rareAny combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.
- Identifiers
- MONDO:0014684 OMIM:616539Orphanet:477684
- Causal genes
- TRMT5
- Also known as
- combined oxidative phosphorylation deficiency 26 · combined oxidative phosphorylation deficiency caused by mutation in TRMT5 · combined oxidative phosphorylation deficiency type 26 · COXPD26 · TRMT5 combined oxidative phosphorylation deficiency
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