Global Variome shared LOVD

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Phenotype #0000328529 Individual ID 00438626 Associated disease DEE Diagnosis/Initial infantile spasms Diagnosis/Definite DEE58 Phenotype details see paper; ..., severe, global developmental delay; 3d-seizure; infantile spasms; EEG modified hyps; MRI brain optic nerve hypoplasia; limb hypertonia, hyperreflexia, acquired microcephaly, visual impairment, swallowing difficulties, intractable seizures Inheritance Isolated (sporadic) Age/Examination 02y09m (2 years, 9 months) 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 11:55:51 +02:00 (CEST)

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