Pontocerebellar hypoplasia type 11

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Pontocerebellar hypoplasia type 11

Synonyms: PCH11 | Pontocerebellar hypoplasia due to TBC1D23

A form of pontocerebellar hypoplasia characterized by microcephaly severe global developmental delay and intellectual disability dysmorphic facial features cerebellar syndrome and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures ocular anomalies recurrent respiratory infections and thin or absent corpus callosum among others.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Pontocerebellar hypoplasia type 11?

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