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 http://www.orphadata.org. Data version April 2024
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Isolated cerebellar agenesis?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
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