Global Variome shared LOVD

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Phenotype #0000079004 Individual ID 00100790 Associated disease EE Phenotype details see paper; 5y-healthy typically developing, except mild expressive speech delay (dysarthria), presented suddenly with focal status epilepticus/encephalopathy after minor head trauma (collision with other child) without loss of consciousness and normal head CT, ... Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset mild expressive speech delay Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-03-10 12:13:30 +01:00 (CET) Date last edited N/A

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