Pontocerebellar Hypoplasia, Type 14 (PCH14)

Pontocerebellar Hypoplasia, Type 14(来自ICD-11)

别称:

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

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