Global Variome shared LOVD

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Phenotype #0000116610 Individual ID 00143832 Associated disease ? Diagnosis/Initial congenital myasthenic syndromes (CMS) Diagnosis/Definite CMS-9 Phenotype details see paper; congenital bilateral ptosis, slowly progressive muscle weakness, walk 14m, particularly lower limbs (observed since 4y); no sucking problems during infancy, ... 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 2015-03-10 19:34:30 +01:00 (CET) Date last edited N/A

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