Global Variome shared LOVD

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Phenotype #0000116605 Individual ID 00143827 Associated disease ? Diagnosis/Initial myasthenic syndrome, congenital Diagnosis/Definite CMS-9 Phenotype details 1–3y ptosis, fatigability (walking long distance) pronounced in evening; exercise-induced weakness deltoid muscle, 4/5 ophthalmoparesis, 2/5 modified Gowers sign/waddling gait or pronounced lordosis Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-02-13 11:05:09 +01:00 (CET) Date last edited 2012-03-09 19:02:29 +01:00 (CET)

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