Isolated cerebellar agenesis

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Isolated cerebellar agenesis

Synonyms: Near total absence of cerebellum | Subtotal absence of cerebellum

A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable but typically includes ataxia dysarthria tremor dysmetria dysdiadochokinesia and oculomotor abnormalities in addition to impaired mental motor and language development and intellectual disability.

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 Data version March 2024

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Isolated cerebellar agenesis?

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