Global Variome shared LOVD

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Phenotype #0000356353 Individual ID 00471546 Associated disease NDD Diagnosis/Initial Williams-Beuren syndrome Diagnosis/Definite - Phenotype details see paper; ..., moderate global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), hypertelorism, bilateral epicanthus, large mouth, thick lips, stellar iris; no congenital heart defect (-HP:0001627); Inheritance Isolated (sporadic) Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-27 15:29:46 +01:00 (CET) Date last edited N/A

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