Global Variome shared LOVD

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

Phenotype #0000109617 Individual ID 00136868 Associated disease DMD Phenotype details Gowers sign (HP:0003391); mild limb hyperextensibility; elevated serum CPK (HP:0003236) 4354 Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - Age/Onset 5y Phenotype/Onset frequent falling, difficulties climbing stairs Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-10-15 22:31:57 +02:00 (CEST) Date last edited N/A

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