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.


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