combined oxidative phosphorylation deficiency 13 (DOID:0111467)
Alliance: disease page
Synonyms: COXPD13
Alt IDs: OMIM:614932
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.