Combined Oxidative Phosphorylation Deficiency 5 (COXPD5)

Combined Oxidative Phosphorylation Deficiency 5, also known as hypotonia with lactic acidemia and hyperammonemia, is related to blepharophimosis, ptosis, and epicanthus inversus and blepharophimosis, and has symptoms including edema, seizures and very poor growth. An important gene associated with Combined Oxidative Phosphorylation Deficiency 5 is MRPS22 (Mitochondrial Ribosomal Protein S22). Affiliated tissues include skeletal muscle and skin, and related phenotypes are hypertrophic cardiomyopathy and hyperammonemia