Global Variome shared LOVD

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Phenotype #0000349698 Individual ID 00462198 Associated disease NDD Diagnosis/Initial focal onset status epilepticus Diagnosis/Definite - Phenotype details see paper; ..., language delay; fine motor delay; no gross motor delay; intellectual disability; no microcephaly; epilepsy; normal muscle tone; ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; hallucinations; aggressive behavior; MRI brain abnormal; systemic dysphagia; no tube feeding; no cryptorchidism; no congenital heart disease Inheritance Isolated (sporadic) Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 8y 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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