Phenotype #0000125327

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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