Global Variome shared LOVD

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Phenotype #0000092702 Individual ID 00043954 Associated disease DMD Phenotype details contractures (HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 15420 Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Familial Diagnosis/Definite - Age/Examination 20y (20 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 01y 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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