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ANK3-related intellectual disability-sleep disturbance syndrome

Disease definition

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 ankryin-3 (ANK3 gene). Additional features observed may incude muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.

ORPHA:356996

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G93.8
  • OMIM: 615493
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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