Global Variome shared LOVD

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Phenotype #0000016189 Individual ID 00017835 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details see paper; severe mental retardation, 3m-first seizure; epileptic spasms, myoclonies/frequent massive myoclonies until present; EEG anomalies slowing, bilateral independent posterior spikes, behavioral anomalies; muscle hypotonia; no MRI anomalies; no facial dysmorphism Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - 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 2014-07-02 07:22:39 +02:00 (CEST) Date last edited N/A

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