Combined Oxidative Phosphorylation Deficiency 3 (COXPD3)

Combined Oxidative Phosphorylation Deficiency 3, also known as fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, is related to combined oxidative phosphorylation deficiency 4 and mitochondrial disease, and has symptoms including ataxia, seizures and tremor. An important gene associated with Combined Oxidative Phosphorylation Deficiency 3 is TSFM (Ts Translation Elongation Factor, Mitochondrial), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include brain, and related phenotypes are dilated cardiomyopathy and hypotonia