Global Variome shared LOVD

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Phenotype #0000352901 Individual ID 00467749 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., pulmonary stenosis, atrial septal defect, ventricular septal defect, aortic dilation; hypertelorism with telecanthus, arched eyebrows, eyelid ptosis, downslanting palpebral fissures, broad nasal root, posteriorly rotated ears, broad face, flattened and thin philtrum, Cupid’s bow mouth; early developmental delay, attention-deficit hyperactivity disorder, autism spectrum disorder, dyslexia; no seizures Inheritance Isolated (sporadic) Age/Examination 10y8m (10 years, 8 months) 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 2025-10-29 10:58:33 +01:00 (CET) Date last edited N/A

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