Global Variome shared LOVD

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Phenotype #0000349699 Individual ID 00462199 Associated disease NDD Diagnosis/Initial epilepsy, mild global developmental delay Diagnosis/Definite - Phenotype details see paper; ..., no language delay; no fine motor delay; no gross motor delay; no microcephaly; epilepsy; normal muscle tone; no ADD/ADHD; no autism spectrum disorder; no anxiety; no self-injurious behavior; no hallucinations; no aggressive behavior; MRI brain normal; systemic dysphagia; tube feeding; no cryptorchidism; no congenital heart disease Inheritance Isolated (sporadic) Age/Examination 5y (5 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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