Global Variome shared LOVD

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Phenotype #0000044441 Individual ID 00057790 Associated disease SMAPME Phenotype details normal motor/intellectual milestones, progressive muscle weakness (lower then upper limbs); 12y-generalized epileptic seizures, numerous brief episodes unconsciousness, myoclonic jerks Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 4y Phenotype/Onset muscle weakness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-10-28 10:09:38 +01:00 (CET) Date last edited N/A

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