Global Variome shared LOVD

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Phenotype #0000125409 Individual ID 00131883 Associated disease MDC Phenotype details congenital muscular dystrophy, merosin (laminin-alfa2 deficiency confirmed by immunohistochemistry Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination 00y02m (2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein muscle, IHC for LAMA2, deficient Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2017-09-21 09:48:08 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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