Global Variome shared LOVD

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

Phenotype #0000092837 Individual ID 00043879 Associated disease DMD Phenotype details confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 13339; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 16y (16 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 7y 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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