Combined Oxidative Phosphorylation Deficiency 51 (COXPD51)

Alias:

Coxpd51

Combined Oxidative Phosphorylation Deficiency, Type 51

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Combined Oxidative Phosphorylation Deficiency 51, is also known as coxpd51. An important gene associated with Combined Oxidative Phosphorylation Deficiency 51 is PTCD3 (Pentatricopeptide Repeat Domain 3). Affiliated tissues include brain and thalamus, and related phenotypes are nystagmus and developmental regression

Related ID：

MALACARDS：CMB107

OMIM：619057

MESH：D028361