Pontocerebellar hypoplasia type 3

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Synonyms: Cerebellar atrophy with progressive microcephaly | PCH3

A rare genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures optic atrophy and short stature from infancy onward. Movement disorders as seen in other forms of PCH are absent.

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 June 2024

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Pontocerebellar hypoplasia type 3?

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