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

Alias:
Cabac
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
小脑共济失调、脑部异常和心脏传导缺陷,也称为cabac,与良性特发性新生儿惊厥有关。与小脑共济失调、脑部异常和心脏传导缺陷有关的重要基因是EXOSC5(外切体成分5)。相关组织包括大脑和心脏,相关表型为智力障碍和高反射。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
3
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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No Data Found!
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