Combined Oxidative Phosphorylation Deficiency 50 (COXPD50)

Combined Oxidative Phosphorylation Deficiency 50(来自ICD-11)

别称:

Coxpd50

Combined Oxidative Phosphorylation Deficiency, Type 50

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Combined Oxidative Phosphorylation Deficiency 50, is also known as coxpd50. An important gene associated with Combined Oxidative Phosphorylation Deficiency 50 is MRPS25 (Mitochondrial Ribosomal Protein S25). Affiliated tissues include brain, and related phenotypes are dysphagia and global developmental delay

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