Global Variome shared LOVD

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Phenotype #0000223748 Individual ID 00296273 Associated disease epilepsy Phenotype details walking without support-24m; seizure; walk-2y; severe intellectual disability; no speech; microcephaly (−2.5 SD); 2y-absence seizure ; seizure therapy responsive; regression motor and verbal skills; ataxia; intention tremor; no dysmorphic features; wheelchair-bound; MRI brain small vermis; EEG abnormal background activity (1 year), slow abnormal sleep features with paucity of sleep spindles (13 years) Diagnosis/Initial epilepsy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-04 16:39:45 +02:00 (CEST) Date last edited N/A

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