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Williams Syndrome

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.
推出的年份: 1996
副标题
树号: C10.597.606.360.970, C14.280.484.048.750.535.960, C16.131.260.970, C16.320.180.970
MeSH 单一 ID: D018980
进入的组:
  • Syndrome, Williams
  • Contiguous Gene Syndrome, Williams
  • Supravalvar Aortic Stenosis Syndrome
  • Chromosome 7q11.23 Deletion Syndrome
  • Beuren Syndrome
  • Syndrome, Beuren
  • Hypercalcemia-Supravalvar Aortic Stenosis
  • Aortic Stenoses, Hypercalcemia-Supravalvar
  • Aortic Stenosis, Hypercalcemia-Supravalvar
  • Hypercalcemia Supravalvar Aortic Stenosis
  • Hypercalcemia-Supravalvar Aortic Stenoses
  • Stenoses, Hypercalcemia-Supravalvar Aortic
  • Stenosis, Hypercalcemia-Supravalvar Aortic
  • Williams-Beuren Syndrome
  • Syndrome, Williams-Beuren
  • Williams Beuren Syndrome
  • Williams Contiguous Gene Syndrome
早前的内容:
  • Aortic Valve Stenosis (1969-1995)

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