Global Variome shared LOVD

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Phenotype #0000352890 Individual ID 00467738 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., moderate intellectual developmental disorder; 16m-walk; 3y-first words; bisyllabism; autism spectrum disorder; limited interaction by interest; no seizures; MRI brain normal; triangular face, anteverted nares, detached ears; short fingers and toes with hypoplastic nails; postnatal growth retardation, 5y-GH-therapy; severe feeding difficulties, gastrostomy placed at 30 mo, surgical closure of atrial septum defect, mild refractive error Inheritance Isolated (sporadic) Age/Examination 11y (11 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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