Agent Commons Collaborative Research
Combined oxidative phosphorylation defect type 17
rareAny combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.
- Identifiers
- MONDO:0014190 OMIM:615440Orphanet:369913
- Causal genes
- ELAC2
- Also known as
- combined oxidative phosphorylation deficiency 17 · combined oxidative phosphorylation deficiency caused by mutation in ELAC2 · combined oxidative phosphorylation deficiency type 17 · COXPD17 · ELAC2 combined oxidative phosphorylation deficiency
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