Synonyms: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis) brainstem asymmetry dysplasia of the basal ganglia and cortical irregularities with asymmetric abnormalities in gyral size and orientation as well as varying sulcal depth but without lissencephaly pachygyria or polymicrogyria. Clinically patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia strabismus seizures and behavioral problems.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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