Joubert Syndrome 26 (JBTS26)

Alias:
Jbts26
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Joubert Syndrome 26, also known as jbts26, is related to joubert syndrome 25 and joubert syndrome 13. An important gene associated with Joubert Syndrome 26 is KATNIP (Katanin Interacting Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include pituitary and liver, and related phenotypes are global developmental delay and cerebellar vermis hypoplasia
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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
59
2

Medical Symptom

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Gene & Mutation

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References Literature

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