Global Variome shared LOVD

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Phenotype #0000153633 Individual ID 00205456 Associated disease EDMD Phenotype details muscle weakness/wasting UL (scapular, humeral) / LL (pelvic, peroneal), rigid spine, stiff neck; contractures ankle/hips, ptosis; ; elevated serum creatine phosphokinase (HP:0003236) 2x Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Familial Diagnosis/Definite EDMD-6 Age/Examination - Age/Onset 4y Phenotype/Onset abnormal gait, contracture ankle joint 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 2012-03-04 15:57:33 +01:00 (CET)

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