Combined Oxidative Phosphorylation Deficiency 15 (COXPD15)

Alias:
Coxpd15
Combined Oxidative Phosphorylation Defect Type 15
Combined Oxidative Phosphorylation Deficiency, Type 15
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Combined Oxidative Phosphorylation Deficiency 15, also known as coxpd15, is related to mitochondrial metabolism disease and deafness, autosomal recessive 94, and has symptoms including ataxia An important gene associated with Combined Oxidative Phosphorylation Deficiency 15 is MTFMT (Mitochondrial Methionyl-TRNA Formyltransferase), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include brain, and related phenotypes are nystagmus and tremor
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
3
12
12

Medical Symptom

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Description
HPO Frequency
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No data available

Gene & Mutation

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No data available

Disease Model

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MGI
Related Gene
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No data available

References Literature

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