Isolated cerebellar vermis agenesis
A rare congenital cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis with no other associated malformations or anomalies. Patients may be asymptomatic although psychomotor delay hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability oculomotor abnormalities (such as nystagmus impaired smooth pursuit impaired saccades strabismus ptosis and oculomotor apraxia) retinopathy abnormal visual evoked potentials ataxia episodic hyperpnea and delayed gait acquisition as well as delayed speech and language development.
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 vermis 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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