Global Variome shared LOVD

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Phenotype #0000349704 Individual ID 00462204 Associated disease NDD Diagnosis/Initial epilepsy, ADHD, psychiatric abnormalities Diagnosis/Definite - Phenotype details see paper; ..., no language delay; fine motor delay; no gross motor delay; no microcephaly; epilepsy; abnormal muscle tone; ADD/ADHD; no autism spectrum disorder; anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; tube feeding; no congenital heart disease Inheritance Isolated (sporadic) Age/Examination 9y (9 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 2025-02-01 10:13:54 +01:00 (CET) Date last edited 2025-12-02 13:47:03 +01:00 (CET)

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