Combined Oxidative Phosphorylation Deficiency 20 (COXPD20)

Combined Oxidative Phosphorylation Deficiency 20, also known as coxpd20, is related to combined oxidative phosphorylation deficiency 2 and neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy. An important gene associated with Combined Oxidative Phosphorylation Deficiency 20 is VARS2 (Valyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include liver and brain, and related phenotypes are global developmental delay and ptosis