Global Variome shared LOVD

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Phenotype #0000161725 Individual ID 00213250 Associated disease CMS Phenotype details 29y-mild bilateral ptosis, paretic nystagmus, wekaness right lateral rectus muscle, mild proximal and distal weakness upper extremities Diagnosis/Initial myasthenic syndrome, congenital Inheritance Unknown Diagnosis/Definite CMS-11 Age/Examination - Age/Diagnosis - Age/Onset 3m Phenotype/Onset episodes abrupt breathing arrest, cyanosis (interpreted as SIDS); childhood intermittent ptosis, lack of endurance during physical activity Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-11-05 12:10:31 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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