Coriell Institute
Williams-Beuren Syndrome Collection
A Resource for Genotype/Phenotype Studies and Gene Discovery

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.

Catalog ID Gender Age Growth Score Behavior Score Facies Score Cardiovascular Score Other Scores Hypercalcemia Score Total Score ELN Deletion
GM13482 F 24 YR 2 2 2 2 2 2 12 Y
GM14162 M 28 YR2 22 22 212 Y
GM14182 M22 YR 2 22 22 212 Y
GM14268 F19 YR2 222 2212Y
GM13461 M12 YR2 22 22 010Y
GM13472 F3 YR2 22 02 210Y
GM13473 F25 YR22202010Y
GM13475M29 YR22222010Y
GM13481F10 YR22222010Y
GM13483M16 YR22222010Y
GM13487F41 YR22202010Y
GM13489F24 YR22222010Y
GM14184M20 YR22222010Y
GM13460F11 YR2221209Y
GM13466M15 YR2221209Y
GM13468M32 YR2221209Y
GM13479F38 YR2221209Y
GM13484F21 YR2221209Y
GM14137F21 YR2221209Y
GM14171M38 YR2221209Y
GM14291F11 YR2221209Y
GM14297F32 YR2221209Y
GM13467M32 YR2220208Y
GM13471F6 YR2220008Y
GM13463F11 YR2221007N
GM13474M7 YR2221007Y
GM13464M4 YR2220006Y
GM13470F9 YR2220006Y
GM13478F29 YR2220006Y
GM13480F23 YR2220006Y
GM13485M4 YR2220006Y
GM13488F14 YR0222206Y
GM13465F8 YR0220004N
GM14033F8 YR0220004N

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