Global Variome shared LOVD

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

Phenotype #0000106744 Individual ID 00133995 Associated disease MD Phenotype details severe; white crystallin trace of thymidine residuals; 25y-FVC 0.50; no intellectual disability (-HP:0001249); 7y-inable to walk (HP:0002540); 6y-inable to walk; 6y-inable to sit Diagnosis/Initial muscular dystrophy, Duchenne-like Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 4y7m Phenotype/Onset - Protein WB SGCG/SGCA/SGCB/SGCD absent Owner name Elena Popescu Database submission license No license selected Created by Elena Popescu Date created 2010-03-30 19:36:48 +02:00 (CEST) Date last edited 2012-03-09 19:32:06 +01:00 (CET)

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