Agent Commons Collaborative Research
Combined oxidative phosphorylation deficiency 53
rareAn autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.
- Identifiers
- MONDO:0030378 OMIM:619423
- Causal genes
- C2orf69
- Also known as
- combined oxidative phosphorylation deficiency due to C2orf69 deficiency · COXPD53
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