FB2026_03 , released September 17, 2026
Human Disease Model Report: Williams-Beuren syndrome
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General Information
Name
Williams-Beuren syndrome
FlyBase ID
FBhh0000449
Disease Ontology Term
Parent Disease
Overview

Williams-Beuren syndrome (WBS) or Williams syndrome (WS) results from the hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23 which contains approximately 28 genes; it is inherited as an autosomal dominant. In flies, the gene LIMK1 has been investigated for its contribution to the WBS phenotype (see FBhh0000450).

[updated Nov. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: Williams-Beuren syndrome
OMIM report

[WILLIAMS-BEUREN SYNDROME; WBS](https://omim.org/entry/194050)

Human gene(s) implicated

[WILLIAMS-BEUREN SYNDROME; WBS](https://omim.org/entry/194050)

Symptoms and phenotype

Williams-Beuren syndrome (WBS) is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and cardiovascular abnormalities. [from Genetics Home Reference, Williams syndrome; 2016.11.28]

Williams syndrome is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity, even among affected family members. [from NORD, Williams Syndrome; 2016.11.28]

Genetics

Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome resulting from the hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23 which contains approximately 28 genes; it is inherited as an autosomal dominant. [from MIM:194050; 2016.11.28]

Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
WBS
Williams syndrome
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
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        Publicly Available Stocks
        References (2)