Williams syndrome

MONDO:0008678

A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

Also known as: Williams syndrome, Williams-Beuren syndrome, Williams-Beuren syndrome (WBS), deletion 7q11.23, monosomy 7q11.23, WBS, WMS, chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb

42 clinical trials for this condition and its sub-types.

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