Combined Oxidative Phosphorylation Deficiency 47 (COXPD47)

Combined Oxidative Phosphorylation Deficiency 47, is also known as coxpd47. An important gene associated with Combined Oxidative Phosphorylation Deficiency 47 is MRPS28 (Mitochondrial Ribosomal Protein S28). Affiliated tissues include globus pallidus and liver, and related phenotypes are failure to thrive and ptosis