Definitions of williams syndrome

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Definition of 'williams syndrome'

Princeton's WordNet

1. (noun) Williams syndrome
a rare congenital disorder associated with deletion of genetic material in chromosome 7; characterized by mental deficiency and some growth deficiency and elfin faces but an overly social personality and a remarkable gift for vocabulary

Definition of 'williams syndrome'

U.S. National Library of Medicine

1. 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.

'williams syndrome' - Nearby Entries
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