Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

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A rare genetic syndromic intellectual disability disease characterized by global developmental delay microcephaly mild to moderate intellectual disability truncal ataxia trunk and limb or generalized choreiform movements and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy muscular weakness or hypotonia in early childhood and/or seizures. Ocular abnormalities (e.g. exophoria anisometropia amblyopia) have been reported.

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 Data version July 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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