Human genes for combined oxidative phosphorylation deficiency 21
Combined oxidative phosphorylation deficiency 21 [DOID:0111465]
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 TARS2 on chromosome 1q21.2.
Synonyms: combined oxidative phosphorylation deficiency 21, DOID:0111465, COXPD21