has material basis in germline mutation in TARS2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 21 https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_21 TARS2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency type 21 SCTID:763211004 COXPD21 Orphanet:420733 GARD:0017700 combined oxidative phosphorylation deficiency caused by mutation in TARS2 Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. combined oxidative phosphorylation deficiency 21 MEDGEN:1638633 OMIM:615918 UMLS:C4706316 MONDO:0014398 DOID:0111465