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Williams Syndrome
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Definition:
A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the gene. Clinical manifestations include supravalvular aortic stenosis (), , elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Synonym(s):
Contiguous Gene Syndrome, Williams /
Elfin Facies Syndrome /
Williams Contiguous Gene Syndrome /
Williams-Beuren Syndrome /
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