Combined Oxidative Phosphorylation Deficiency 21 (COXPD21)

Combined Oxidative Phosphorylation Deficiency 21, is also known as combined oxidative phosphorylation defect type 21. An important gene associated with Combined Oxidative Phosphorylation Deficiency 21 is TARS2 (Threonyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include globus pallidus and liver, and related phenotypes are seizure and global developmental delay