Pontocerebellar Hypoplasia, Type 4 (PCH4)

Alias:

Pontocerebellar Hypoplasia Type 4

Olivopontocerebellar Hypoplasia

Pch4

Fatal Infantile Encephalopathy with Olivopontocerebellar Hypoplasia

Encephalopathy, Fatal Infantile, with Olivopontocerebellar Hypoplasia

Encephalopathy Fatal Infantile with Olivopontocerebellar Hypoplasia

Hypoplasia, Pontocerebellar, Type 4

Young Mckeever Squier Syndrome

Pontocerebellar Hypoplasia 4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pontocerebellar Hypoplasia, Type 4, also known as pontocerebellar hypoplasia type 4, is related to pontocerebellar hypoplasia, type 6 and microcephaly, and has symptoms including muscle spasticity, myoclonus and seizures. An important gene associated with Pontocerebellar Hypoplasia, Type 4 is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways are RNA Polymerase III Transcription Initiation and tRNA processing. Affiliated tissues include cerebellum and brain, and related phenotypes are seizure and abnormal facial shape

Related ID：

MALACARDS：PNT043

OMIM：225753

MESH：C536716