Combined oxidative phosphorylation deficiency 53

MONDO:0030378

An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.

Also known as: COXPD53, combined oxidative phosphorylation deficiency due to C2orf69 deficiency

13 clinical trials for this condition and its sub-types, 0 tagged with Combined oxidative phosphorylation deficiency 53 itself.

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