Combined Oxidative Phosphorylation Deficiency 18 (COXPD18)

Combined Oxidative Phosphorylation Deficiency 18, also known as growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, is related to sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and mitochondrial complex v deficiency, mitochondrial type 1, and has symptoms including tremor An important gene associated with Combined Oxidative Phosphorylation Deficiency 18 is SFXN4 (Sideroflexin 4), and among its related pathways/superpathways is Mitochondrial complex III assembly. Affiliated tissues include neutrophil and skeletal muscle, and related phenotypes are hypotonia and delayed speech and language development