Global Variome shared LOVD

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Phenotype #0000092870 Individual ID 00043927 Associated disease DMD Phenotype details scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 33000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Familial Diagnosis/Definite - Age/Examination 21y (21 years) Age/Onset - Phenotype/Onset - Age/Diagnosis - 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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