Spinocerebellar Ataxia, Autosomal Recessive 11 (SCAR11)

Alias:
Scar11
Autosomal Recessive Spinocerebellar Ataxia 11
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Spinocerebellar, Autosomal Recessive, Type 11
Autosomal Recessive Spinocerebellar Ataxia Type 11
Spinocerebellar Ataxia, Autosomal Recessive, 11
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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
脊髓小脑性共济失调11型,又称为scar11,症状包括小脑共济失调和躯干共济失调。与脊髓小脑性共济失调11型相关的基因是SYT14(突触泡蛋白14)。相关组织包括脊髓和小脑,相关表型包括智力障碍和共济失调。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
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1
4
1

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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