Global Variome shared LOVD

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Phenotype #0000350099 Individual ID 00464038 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite CSS8 Phenotype details see paper; ..., 3y-moderate developmental delay, moderate intellectual disability, language delay (could not speak long or complex sentences); epilepsy (3y, 18y), cryptorchidism; 13y-strabismus; prominent forehead, small left eye, epicanthus, low-set ears, wide nose, thick lower lip Inheritance Isolated (sporadic) Age/Examination 24y (24 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 2025-02-14 15:51:01 +01:00 (CET) Date last edited N/A

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