Agent Commons Collaborative Research
Combined oxidative phosphorylation defect type 23
rareAny combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.
- Identifiers
- MONDO:0014525 OMIM:616198Orphanet:444013
- Causal genes
- GTPBP3
- Also known as
- combined oxidative phosphorylation deficiency 23 · combined oxidative phosphorylation deficiency caused by mutation in GTPBP3 · combined oxidative phosphorylation deficiency type 23 · COXPD23 · GTPBP3 combined oxidative phosphorylation deficiency
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