Global Variome shared LOVD

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Phenotype #0000328575 Individual ID 00438672 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite MRD55 Phenotype details see paper; ..., global developmental delay, moderate intellectual disability, autism spectrum disorder; 10m-seizures; EEG diffuse slowing, bi-frontal predominance or generalized spikes; MRI brain normal; ADHD, tremor, seizures controlled under VPA and CLB Inheritance Isolated (sporadic) Age/Examination 15y (15 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 2023-10-21 19:20:17 +02:00 (CEST) Date last edited 2023-10-23 15:28:31 +02:00 (CEST)

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