combined oxidative phosphorylation deficiency 24 (DOID:0111485)
Alliance: disease page
Synonyms: COXPD24
Alt IDs: OMIM:616239, ORDO:444458
Definition: A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.