Global Variome shared LOVD

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Phenotype #0000153650 Individual ID 00205473 Associated disease RBM Diagnosis/Initial reducing body myopathy (RBM) Diagnosis/Definite RBMX-1 Phenotype details classic early onset severe RBM; 6y loss all antigravity strength, death respiratory failure; normal ECHO; 4y6m-lost ability to walk (HP:0006957) Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 2y Phenotype/Onset progressive 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 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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