Term Name:	combined oxidative phosphorylation deficiency 24
Synonyms:	COXPD24
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.
Ontology:	Human Disease [DOID:0111485]   ( DOID:0111485 )