Term Name:	combined oxidative phosphorylation deficiency 53
Synonyms:	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.
Ontology:	Human Disease [DOID:0070426]   ( DOID:0070426 )