combined oxidative phosphorylation deficiency 14 (DOID:0111477)
Alliance: disease page
Synonyms: COXPD14
Alt IDs: OMIM:614946, ORDO:319519
Definition: A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1.