Combined Oxidative Phosphorylation Deficiency 27 (COXPD27)

Combined Oxidative Phosphorylation Deficiency 27(来自ICD-11)

别称:

Combined Oxidative Phosphorylation Defect Type 27

Coxpd27

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Combined Oxidative Phosphorylation Deficiency 27, is also known as combined oxidative phosphorylation defect type 27. An important gene associated with Combined Oxidative Phosphorylation Deficiency 27 is CARS2 (Cysteinyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include skeletal muscle and liver, and related phenotypes are intellectual disability and developmental regression

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