ANK3-related intellectual disability-sleep disturbance syndrome
A rare genetic syndromic intellectual disability disorder characterized by variable degrees of intellectual disability behavioral problems (including attention deficit and hyperactivity disorder autism spectrum disorder and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin-3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy chronic hunger and dysmorphic facial features have been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
ANK3-related intellectual disability-sleep disturbance syndrome?
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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.
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