Pontocerebellar Hypoplasia, Type 16 (PCH16)

Alias:

Pch16

Pontocerebellar Hypoplasia Type 16

Pontocerebellar Hypoplasia 16

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pontocerebellar Hypoplasia, Type 16, also known as pch16, is related to pontocerebellar hypoplasia, type 2a and non-syndromic pontocerebellar hypoplasia. An important gene associated with Pontocerebellar Hypoplasia, Type 16 is MINPP1 (Multiple Inositol-Polyphosphate Phosphatase 1). Affiliated tissues include pons and thalamus, and related phenotypes are nystagmus and dysphagia

Related ID：

MALACARDS：PNT059

OMIM：619527

MESH：D002526