Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

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Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

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 http: // Data version October 2023.

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