Global Variome shared LOVD

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

Phenotype #0000125327 Individual ID 00102737 Associated disease MDC Phenotype details Brain MRI: white matter changes; IHC LAMA2 partially absent. Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein IHC LAMA2 partially absent Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-02 23:54:04 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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