Pontocerebellar Hypoplasia, Type 11 (PCH11)

Alias:

Pch11

Pontocerebellar Hypoplasia Type 11

Hypoplasia, Pontocerebellar, Non-Degenerative, Type 11

Pontocerebellar Hypoplasia Due to Tbc1d23

Pontocerebellar Hypoplasia 11

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pontocerebellar Hypoplasia, Type 11, also known as pch11, is related to pontocerebellar hypoplasia, type 2e and microcephaly. An important gene associated with Pontocerebellar Hypoplasia, Type 11 is TBC1D23 (TBC1 Domain Family Member 23). Affiliated tissues include brain and pons, and related phenotypes are spasticity and global developmental delay

Related ID：

MALACARDS：PNT050

OMIM：617695

MESH：D002526