Global Variome shared LOVD

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

Phenotype #0000161723 Individual ID 00213248 Associated disease CMS Phenotype details 19y-macular rash involving neck, trunk, left arm, leg (since birth), mild bilateral ptosis, mild facial weakness, mild generalized reduction muscle power Diagnosis/Initial myasthenic syndrome, congenital Inheritance Unknown Diagnosis/Definite CMS-11 Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset hypotonic, arthrogryposis knees/hips, poor suck/cry, required oxygen and frequent suctioning; childhood recurrent respiratory infections, generalized weakness 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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