Global Variome shared LOVD

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

Phenotype #0000092763 Individual ID 00043943 Associated disease BMD Phenotype details no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 15-31y; contractures (HP:0001371); cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) Diagnosis/Initial dystrophy, muscular, Becker type (BMD) Inheritance Isolated (sporadic) Diagnosis/Definite dystrophy, muscular, Becker type (BMD) Age/Examination 31y (31 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 8y 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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