Combined Oxidative Phosphorylation Deficiency 22 (COXPD22)

Combined Oxidative Phosphorylation Deficiency 22, also known as coxpd22, is related to mitochondrial complex v deficiency, nuclear type 5 and combined oxidative phosphorylation deficiency 18, and has symptoms including seizures An important gene associated with Combined Oxidative Phosphorylation Deficiency 22 is ATP5F1A (ATP Synthase F1 Subunit Alpha), and among its related pathways/superpathways is Mitochondrial complex III assembly. Affiliated tissues include heart, and related phenotypes are hypotonia and microcephaly