Global Variome shared LOVD

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Phenotype #0000357611 Individual ID 00472816 Associated disease WBS Phenotype details see paper; ..., Williams syndrome; mild cognitive disability; leg cramping, difficulty walking upstairs, normal neuromuscular exam; no dilated cardiomyopathy; normal CK levele33–111 U/L >1200 U/L during episode of chest pain Diagnosis/Initial Williams syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite WBS Age/Examination 30y-39y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-01 16:08:29 +01:00 (CET) Date last edited N/A

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