Joubert Syndrome 31 (JBTS31)

Alias:
Jbts31
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Joubert Syndrome 31, also known as jbts31, is related to brugada syndrome 9. An important gene associated with Joubert Syndrome 31 is CEP120 (Centrosomal Protein 120). Affiliated tissues include liver, and related phenotypes are hypotonia and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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6
33
1

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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