Global Variome shared LOVD

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Phenotype #0000153635 Individual ID 00205458 Associated disease EDMD Phenotype details muscle weakness/wasting UL (humeral) / LL (peroneal); contractures elbow/ankle, dysphonia due to vocal cord palsy; elevated serum creatine phosphokinase (HP:0003236) 2.3x Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite EDMD-6 Age/Examination - Age/Onset 10y Phenotype/Onset tiptoe walking Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-09-11 20:47:21 +02:00 (CEST) Date last edited 2012-03-09 19:08:25 +01:00 (CET)

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