ANK3-related intellectual disability-sleep disturbance syndrome

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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.

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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ANK3-related intellectual disability-sleep disturbance syndrome?

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