Global Variome shared LOVD

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Phenotype #0000125723 Individual ID 00152988 Associated disease CMS Phenotype details developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness Diagnosis/Initial syndrome, myasthenic, congenital Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 0d Phenotype/Onset ptosis, limb muscle weakness Protein no AChR antibodies 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 11:28:19 +01:00 (CET) Date last edited 2012-03-09 19:02:28 +01:00 (CET)

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