Non-Syndromic Pontocerebellar Hypoplasia (PCH)

Alias:
Pontoneocerebellar Hypoplasia
Pontoneocerebellar Atrophy
Pch
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Non-Syndromic Pontocerebellar Hypoplasia, also known as pontoneocerebellar hypoplasia, is related to pontocerebellar hypoplasia, type 1a and pontocerebellar hypoplasia, type 1c. An important gene associated with Non-Syndromic Pontocerebellar Hypoplasia is EXOSC3 (Exosome Component 3), and among its related pathways/superpathways is tRNA processing. Affiliated tissues include pons and cerebellum.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
--
12
63
65

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
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Phase
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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IF
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