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Combined oxidative phosphorylation defect type 17

MONDO:0014190

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.

Also known as: COXPD17, ELAC2 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency caused by mutation in ELAC2, combined oxidative phosphorylation deficiency type 17, combined oxidative phosphorylation deficiency 17

13 clinical trials for this condition and its sub-types, 0 tagged with Combined oxidative phosphorylation defect type 17 itself.

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