Term Name:	combined oxidative phosphorylation deficiency 14
Synonyms:	COXPD14
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.
Ontology:	Human Disease [DOID:0111477]   ( DOID:0111477 )