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DeCS
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Descriptor English:
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Williams Syndrome
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Descriptor Spanish:
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síndrome de Williams
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Descriptor Portuguese:
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Síndrome de Williams
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Synonyms English:
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Aortic Stenoses, Hypercalcemia-Supravalvar
Aortic Stenosis, Hypercalcemia-Supravalvar
Beuren Syndrome
Chromosome 7q11.23 Deletion Syndrome
Contiguous Gene Syndrome, Williams
Hypercalcemia Supravalvar Aortic Stenosis
Hypercalcemia-Supravalvar Aortic Stenoses
Hypercalcemia-Supravalvar Aortic Stenosis
Stenoses, Hypercalcemia-Supravalvar Aortic
Stenosis, Hypercalcemia-Supravalvar Aortic
Supravalvar Aortic Stenosis Syndrome
Syndrome, Beuren
Syndrome, Williams
Syndrome, Williams-Beuren
Williams Beuren Syndrome
Williams Contiguous Gene Syndrome
Williams-Beuren Syndrome
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Tree Number:
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C10.597.606.360.970
C14.280.484.150.535.960
C16.131.260.970
C16.320.180.970
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Definition English:
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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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Indexing Annotation English:
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do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency
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See Related English:
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Elastin
Intellectual Disability
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History Note English:
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96
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Allowable Qualifiers English:
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Record Number:
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32574
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Unique Identifier:
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D018980
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Occurrence in VHL:
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Similar:
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DeCS
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