Global Variome shared LOVD

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Phenotype #0000352883 Individual ID 00467731 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., moderate developmental delay; 14m-walk; 4y-first words; speech few words, use of pictograms for 50 words; autism spectrum disorder; phobia of fans, poor eye contact; no seizures; high forehead, ogival palate and one cafe-au-lait spot; normal extremities; no postnatal growth retardation; structural enamel defects on all temporary second molars, requiring tooth extraction Inheritance Isolated (sporadic) Age/Examination 4y (4 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 2025-10-29 10:02:21 +01:00 (CET) Date last edited N/A

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