Global Variome shared LOVD

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Phenotype #0000041544 Individual ID 00054883 Associated disease EPM6 Phenotype details 6y myoclonus; 14y convulsive seizures; 3y areflexia; 13y wheelchair; normal cognition; scoliosis, syndactly; EEG generalized spike-wave photosensitive; CK 141–267 (normal <170) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 3y 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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