Term Name:	combined oxidative phosphorylation deficiency 13
Synonyms:	COXPD13
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.
Ontology:	Human Disease [DOID:0111467]   ( DOID:0111467 )