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Syndrome

Williams Syndrome

AMW:DIS:100497

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.

Pathology clinical
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Graph assertions

Williams Syndrome has parent Aortic Stenosis, Supravalvular
Williams Syndrome has parent Chromosome Disorders
Williams Syndrome has parent Intellectual Disability
Aortic Stenosis, Supravalvular has risk factor Williams Syndrome

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