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Pontocerebellar Hypoplasia, Type 14 (PCH14)

Alias:
Pch14
Pontocerebellar Hypoplasia Type 14
Pontocerebellar Hypoplasia 14
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pontocerebellar Hypoplasia, Type 14, is also known as pch14. An important gene associated with Pontocerebellar Hypoplasia, Type 14 is PPIL1 (Peptidylprolyl Isomerase Like 1). Affiliated tissues include brain and pons, and related phenotypes are agenesis of corpus callosum and intellectual disability, severe
Related ID：
MALACARDS：PNT055
OMIM：619301
MESH：D002526

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
5
57
1
PNT055

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

Name
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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