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://www.orphadata.org. Data version April 2024
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Intellectual disability-epilepsy-extrapyramidal syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.