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Human Disease
combined oxidative phosphorylation deficiency 53
- Term ID
- DOID:0070426
- Synonyms
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- COXPD53
- Definition
- A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. (2)
- References
- Ontology
- Human Disease ( DOID:0070426 )
- is a type of
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