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Angelman syndrome

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Description

Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent 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.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Sporadic
  • Autosomal dominant (loss of maternal allele)

VARIANTS

229

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Genes

External Links

  • OMIM

    105830

  • Orphanet

    72

  • HPO
  • Medgen

    C0162635

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