Global Variome shared LOVD

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Phenotype #0000159749 Individual ID 00211267 Associated disease CMS Phenotype details bilateral ptosis; mild ophthalmoplegia, facial weakness; high-arched palate; proximal weakness worse in legs than arms; mild hip and knee contractures; waddling gait w/ in-toing Diagnosis/Initial congenitnal myasthenic syndrome Inheritance Unknown Diagnosis/Definite CMS-10 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Tom Winder Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-09-19 18:51:52 +02:00 (CEST) Date last edited 2013-02-01 19:44:11 +01:00 (CET)

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