Phenotype #0000125369

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00103663
Associated disease	MDC
Phenotype details	-
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	00y03m
Phenotype/Onset	-
Protein	muscle, IHC for LAMA2, no expression
Owner name	Jorge Oliveira
Database submission license
Created by	Jorge Oliveira
Date created	2017-04-15 21:35:51 +02:00 (CEST)
Date last edited	2019-08-02 19:23:04 +02:00 (CEST)

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