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Human Disease

combined oxidative phosphorylation deficiency 53

Term ID
DOID:0070426
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. (2)
References
Ontology
Human Disease   ( DOID:0070426 )
Relationships
is a type of
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Genes Involved
Zebrafish Models