Combined Oxidative Phosphorylation Deficiency 54 (COXPD54)

Combined Oxidative Phosphorylation Deficiency 54, also known as coxpd54, is related to perrault syndrome and combined oxidative phosphorylation deficiency. An important gene associated with Combined Oxidative Phosphorylation Deficiency 54 is PRORP (Protein Only RNase P Catalytic Subunit). Affiliated tissues include brain, and related phenotypes are global developmental delay and intellectual disability