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Metadata
ID	DOID:0111485
Name	combined oxidative phosphorylation deficiency 24
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. https://www.ncbi.nlm.nih.gov/pubmed/25385316, https://www.ncbi.nlm.nih.gov/pubmed/25629079, https://www.ncbi.nlm.nih.gov/pubmed/28077841
Xrefs	OMIM:616239 ORDO:444458
Subsets	DO_rare_slim
Synonyms	COXPD24 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease