Related MeSH Hierarchy (4)
Diseases [C] » Cardiovascular Diseases [C14] » Heart Diseases » Heart Valve Diseases » Aortic Valve Disease » Aortic Valve Stenosis » Aortic Stenosis, Supravalvular » Williams Syndrome
Diseases [C] » Nervous System Diseases [C10] » Neurologic Manifestations » Neurobehavioral Manifestations » Intellectual Disability » Williams Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders » Williams Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome Disorders » Williams Syndrome
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. MeSH
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Phase 4 Indicated Drugs (4)
Phase 3 Indicated Drugs (1)
Phase 2 Indicated Drugs (1)
Other Experimental Indicated Drugs (1)
Organization Involved with Phase 4 Indications (1)
Organization Involved with Phase 2 Indications (1)
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UMLS Data
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