Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects (CABAC)

Alias:
Cabac
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects, also known as cabac, is related to benign idiopathic neonatal seizures. An important gene associated with Cerebellar Ataxia, Brain Abnormalities, and Cardiac Conduction Defects is EXOSC5 (Exosome Component 5). Affiliated tissues include brain and heart, and related phenotypes are intellectual disability and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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