Pontocerebellar Hypoplasia, Type 14 (PCH14)

Alias:
Pch14
Pontocerebellar Hypoplasia Type 14
Pontocerebellar Hypoplasia 14
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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
PCH14(Pontocerebellar Hypoplasia, Type 14)也被称为pch14。与PCH14相关的基因是PPIL1(Peptidylprolyl Isomerase Like 1)。相关组织包括大脑和脑桥,相关表型包括胼胝体发育不全和智力障碍,严重程度不一。
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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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5
57
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
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IF
No Data Found!
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