Pontocerebellar Hypoplasia, Type 2c (PCH2C)

Alias:
Pontocerebellar Hypoplasia Type 2c
Pch2c
Hypoplasia, Pontocerebellar, Type 2c
Pontocerebellar Hypoplasia 2c
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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
PCH2C(桥脑小脑发育不全2c型)也被称为PCH2C。与PCH2C相关的基因是TSEN34(转运RNA剪接内切酶亚基34)。相关组织包括脊髓和小脑,相关表型为舞蹈病和小头畸形。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
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2

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
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IF
No Data Found!
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