The Williams-Beuren Syndrome (WBS), also referred to as Williams Syndrome (WS) (OMIM #194050), is a contiguous gene syndrome involving deletions of chromosome 7 in band 7q11.23 spanning a number of genes, including in the elastin gene (ELN; 130160), the LIMK1 gene (601329), the RFC2 gene (600404) and the CYLN2 gene (603432).

This collection was established through the efforts of the Williams Syndrome Association and its members who donated blood samples and shared their clinical histories. This clinical data was uniformly collected using the Williams Syndrome Diagnostic check-list created by the WSA Working Group. The clinical phenotype of each member of the collection is summarized in the table below. The collection is sortable by magnitude of total scores for each category when the underlined title is clicked. Detailed results for each individual for each clinical category are provided when the adjacent magnifying glass icon is clicked. An Excel spreadsheet is also available for Williams Syndrome Association.