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Metadata
ID	DOID:0111467
Name	combined oxidative phosphorylation deficiency 13
Definition	A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. https://www.ncbi.nlm.nih.gov/pubmed/23084291
Xrefs	MIM:614932
Synonyms	COXPD13 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease