Term Name:	combined oxidative phosphorylation deficiency 21
Synonyms:	COXPD21
Definition:	A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2.
Ontology:	Human Disease [DOID:0111465]   ( DOID:0111465 )