Isolated unilateral hemispheric cerebellar hypoplasia
Isolated unilateral hemispheric cerebellar hypoplasia is a rare non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres fourth ventricle pons medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay hypotonia abnormal ocular movements persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.
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 unilateral hemispheric cerebellar hypoplasia?
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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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