Williams Syndrome

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Is a:
  • Disease or Syndrome
Definition:
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the elastin gene. Clinical manifestations include supravalvular aortic stenosis; mental retardation; elfin facies; impaired visuospatial constructive abilities; and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Synonyms:
  • Contiguous Gene Syndrome, Williams
  • Elfin Facies Syndrome
  • Elfin Facies Syndromes
  • Syndrome, Elfin Facies
  • Syndrome, Williams
  • Syndrome, Williams-Beuren
  • Williams Beuren Syndrome
  • Williams Contiguous Gene Syndrome
  • Williams-Beuren Syndrome
Broader Topics:
Narrower Topics:
  • None
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  • List of topics based on word similarity