Global Variome shared LOVD

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Phenotype #0000092699 Individual ID 00043842 Associated disease BMD/DMD Diagnosis/Initial dystrophy, muscular, Becker/Duchenne type (BMD/DMD) Diagnosis/Definite dystrophy, muscular, Becker type (BMD) Phenotype details contractures (HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); restrictive lung disease (HP:0002091); CK level 13000 Inheritance Isolated (sporadic) Age/Examination 26y (26 years) Age/Diagnosis 08y Age/Onset - Phenotype/Onset - Protein - Owner name Manuel F. Mas Rodriguez Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Manuel F. Mas Rodriguez Date created 2015-05-12 16:00:54 +02:00 (CEST) Date last edited N/A

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