Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000092704 Individual ID 00043979 Associated disease DMD Phenotype details no contractures (-HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) <08y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 17745 Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 25y (25 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 07y 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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