Global Variome shared LOVD

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Phenotype #0000352893 Individual ID 00467741 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., langage delay; <18m-walk; 2y-first words; speech few words; no autism spectrum disorder; normal behavior; no seizures; MRI brain pineal cyst, white matter hypersignals; enophtalmia, prognathism; hypoplastic toenails; no postnatal growth retardation; feeding difficulties during infancy Inheritance Isolated (sporadic) Age/Examination 3y (3 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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