Combined Oxidative Phosphorylation Deficiency 35 (COXPD35)

Combined Oxidative Phosphorylation Deficiency 35, also known as coxpd35, is related to combined oxidative phosphorylation deficiency and aortic valve disease 1. An important gene associated with Combined Oxidative Phosphorylation Deficiency 35 is TRIT1 (TRNA Isopentenyltransferase 1). Related phenotypes are spasticity and eeg abnormality