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Disease Williams Syndrome

Name Williams Syndrome
Synonyms Aortic Stenoses, Hypercalcemia-Supravalvar | Aortic Stenosis, Hypercalcemia-Supravalvar | Beuren Syndrome | Chromosome 7q11.23 Deletion Syndrome | CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | Contiguous Gene Syndrome, Williams | Hypercalcemia-Supravalvar Aortic Stenoses | Hypercalcemia Supravalvar Aortic Stenosis | Hypercalcemia-Supravalvar Aortic Stenosis | Stenoses, Hypercalcemia-Supravalvar Aortic | Stenosis, Hypercalcemia-Supravalvar Aortic | Supravalvar Aortic Stenosis Syndrome | Syndrome, Beuren | Syndrome, Williams | Syndrome, Williams-Beuren | WBS | Williams Beuren Syndrome | Williams-Beuren Syndrome | Williams Contiguous Gene Syndrome | WILLIAMS SYNDROME | WMS | WS
Definition 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.
Categories Cardiovascular disease | Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D018980
OMIM® ID 194050
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Williams Syndrome Has associated chemicals Has associated genes
2. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Valve Diseases Has associated chemicals Has associated genes Has associated exposure references Aortic Valve Stenosis Has associated chemicals Has associated genes Aortic Stenosis, Supravalvular Has associated chemicals Has associated genes Williams Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Williams Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Williams Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Williams Syndrome Has associated chemicals Has associated genes
  Williams-Beuren Region Duplication Syndrome