Pontocerebellar Hypoplasia, Type 10 (PCH10)

Alias:

Pontocerebellar Hypoplasia Type 10

Pch10

Clp1-Related Pontocerebellar Hypoplasia

Hypoplasia, Pontocerebellar, Type 10

Pontocerebellar Hypoplasia 10

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pontocerebellar Hypoplasia, Type 10, also known as pontocerebellar hypoplasia type 10, is related to pontocerebellar hypoplasia and microcephaly, and has symptoms including muscle spasticity An important gene associated with Pontocerebellar Hypoplasia, Type 10 is CLP1 (Cleavage Factor Polyribonucleotide Kinase Subunit 1), and among its related pathways/superpathways is tRNA processing. Affiliated tissues include brain and pons, and related phenotypes are hyperreflexia and delayed speech and language development

Related ID：

MALACARDS：PNT033

OMIM：615803

MESH：D002526