Rhombencephalosynapsis
A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres dentate nuclei and middle cerebellar peduncles and complete or partial absence of the vermis. It may occur as an isolated anomaly or together with other malformations of the brain and is associated with variable clinical manifestations including developmental delay ataxia dysarthria oculomotor abnormalities seizures and involuntary head movements among others.
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 October 2023.
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Rhombencephalosynapsis?
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Advocacy Organizations
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Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
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