Global Variome shared LOVD

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Phenotype #0000357191 Individual ID 00472388 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; sleep problems; 2m-epileptic spasm, tonic seizures; dysmorphic features; 3y-MRI brain brain atrophy, dno elayed myelination, small asal ganglia/hippocampi Inheritance Familial, autosomal recessive Age/Examination 17y (17 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 2026-02-09 14:23:44 +01:00 (CET) Date last edited N/A

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