Pontocerebellar Hypoplasia, Type 5 (PCH5)

Alias:

Pontocerebellar Hypoplasia Type 5

Olivopontocerebellar Hypoplasia, Fetal-Onset

Pch5

Hypoplasia, Pontocerebellar, Type 5

Pontocerebellar Hypoplasia 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pontocerebellar Hypoplasia, Type 5, also known as pontocerebellar hypoplasia type 5, is related to pontocerebellar hypoplasia, type 4 and pontocerebellar hypoplasia, type 2a. An important gene associated with Pontocerebellar Hypoplasia, Type 5 is TSEN54 (TRNA Splicing Endonuclease Subunit 54). Affiliated tissues include cerebellum and pons, and related phenotypes are seizure and microcephaly

Related ID：

MALACARDS：PNT046

OMIM：610204

MESH：C537745