Intellectual disability-epilepsy-extrapyramidal syndrome

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Intellectual disability-epilepsy-extrapyramidal syndrome

A rare genetic neurological disorder characterized by hypotonia delayed motor development dyskinesia of the limbs intellectual disability with impaired speech development seizures autistic features stereotypic movements and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.

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 September 2023.

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