Global Variome shared LOVD

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

Phenotype #0000125407 Individual ID 00111377 Associated disease MDC Phenotype details congenital muscular dystrophy, type 1a, merosin deficiency Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination 02y (2 years) Age/Diagnosis 02y Age/Onset 00y Phenotype/Onset - Protein muscle, IHC for LAMA2, no expression Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2017-08-02 16:21:53 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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