combined oxidative phosphorylation deficiency 53 (DOID:0070426)
Alliance: disease page
Synonyms: COXPD53
Alt IDs: OMIM:619423
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.