Global Variome shared LOVD

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Phenotype #0000092748 Individual ID 00043891 Associated disease BMD Phenotype details confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >35y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) Diagnosis/Initial dystrophy, muscular, Becker type (BMD) Inheritance Isolated (sporadic) Diagnosis/Definite dystrophy, muscular, Becker type (BMD) Age/Examination 35y (35 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 15y Protein - Owner name Manuel F. Mas Rodriguez Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-05-12 16:00:54 +02:00 (CEST) Date last edited N/A

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