Tubulinopathy-associated dysgyria

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Tubulinopathy-associated dysgyria

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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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Tubulinopathy-associated dysgyria?

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Advocacy Organizations

National Organization for Disorders of the Corpus Callosum

The NODCC has become the leading organization for disorders of the corpus callosum seeking to raise the profile, understanding and acceptance of these disorders through education, networking, advocacy, and being a catalyst for research.

Clinical Trials

For a list of clinical trials in this disease area, please click here.