GTR Home > Conditions/Phenotypes > Angelman syndrome

Summary

Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year, and it can take several years before the correct clinical diagnosis is obvious. [from GeneReviews]

Associated genes

Clinical features

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Clinical resources

Practice guidelines

  • ESHG/ASHG, 2015
    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
  • ACMG, 2001
    American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy
  • Eurogentest, 2008

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