Mesh term Williams Syndrome
Browse to parent terms:Aortic Stenosis, Supravalvular
Chromosome Disorders
Intellectual Disability
Description
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.Search for this term in our Faculty Database
View this term at the NCBI website
