Global Variome shared LOVD

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Phenotype #0000342219 Individual ID 00453561 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; no intellectual disability; mild speech delay; no hypotonia; no seizures; no motor problems; coarctation of the aorta, hypoplastic aortic arch, bicuspid aortic valve,ventricular septal defect, atrial septal defect, persistent left superior vena cava; ectodermal dysplasia (nail hypoplasia, lacrimal duct obstruction, oligodontia), hyperopia Inheritance Isolated (sporadic) Age/Examination 5y (5 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 2024-09-10 17:46:49 +02:00 (CEST) Date last edited N/A

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