About The Medical Condition Williams Contiguous Gene Syndrome
Find the definition of the medical term Williams Contiguous Gene Syndrome. Williams Contiguous Gene Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Williams Contiguous Gene Syndrome
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What's The Definition Of The Medical Condition Williams Contiguous Gene Syndrome?
A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS, SUPRAVALVULAR), 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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