Joubert Syndrome 15 (JBTS15)

Alias:
Jbts15
Joubert Syndrome, Type 15
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Joubert Syndrome 15, also known as jbts15, is related to joubert syndrome 10 and arima syndrome, and has symptoms including ataxia An important gene associated with Joubert Syndrome 15 is CEP41 (Centrosomal Protein 41), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include liver and cerebellum, and related phenotypes are ambiguous genitalia and retinal dystrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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11
47
2

Medical Symptom

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Gene & Mutation

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References Literature

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