Global Variome shared LOVD

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Phenotype #0000041546 Individual ID 00054885 Associated disease EPM6 Phenotype details 6y myoclonus; 21y tonic-clonic seizures; 6y areflexia; 14y wheelchair; normal cognition; scoliosis; EEG generalized discharges photosensitive; CK 300–668 (normal <170) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 2y6m Phenotype/Onset ataxia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-12-01 04:31:33 +01:00 (CET) Date last edited N/A

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