Global Variome shared LOVD

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Phenotype #0000328580 Individual ID 00438677 Associated disease DEE Diagnosis/Initial infantile spasms Diagnosis/Definite - Phenotype details see paper; ..., severe global developmental delay, severe intellectual disability; 4m-seizures; EEG modified hypsarrhythmia, myoclonic, diffuse slowing with myoclonic spikes; MRI brain atrophy, partial agenesis corpus callosum, delayed myelination, decreased N-acetylaspartate; acquired microcephaly, axial hypotonia Inheritance Isolated (sporadic) Age/Examination 09y06m (9 years, 6 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 15:39:43 +02:00 (CEST)

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