Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000153522 Individual ID 00205328 Associated disease CMS Phenotype details moderate; gross motor development delayed, poor facial mimics, repeated episodes acute respiratory distress, edrophonium test negative; 5y-climb stairs at hand Diagnosis/Initial congenital myasthenic syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CMS-5 Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset ptosis, muscular weakness Protein - Owner name Angela Abicht Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-02-13 11:32:36 +01:00 (CET) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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