Combined Oxidative Phosphorylation Deficiency 4 (COXPD4)

Combined Oxidative Phosphorylation Deficiency 4, also known as coxpd4, is related to combined oxidative phosphorylation deficiency and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. An important gene associated with Combined Oxidative Phosphorylation Deficiency 4 is TUFM (Tu Translation Elongation Factor, Mitochondrial), and among its related pathways/superpathways are 16p11.2 distal deletion syndrome and Mitochondrial immune response to SARS-CoV-2. Affiliated tissues include brain, and related phenotypes are spasticity and nystagmus