ANK3-related intellectual disability-sleep disturbance syndrome

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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ANK3-related intellectual disability-sleep disturbance syndrome?

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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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