Phenotype #0000125178

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00102374
Associated disease	MDC
Phenotype details	hypotonia
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	8m
Age/Onset	-
Phenotype/Onset	-
Protein	IHC/WB LAMA2 negative
Owner name	Jeffrey Miller
Database submission license	No license selected
Created by	Jeffrey Miller
Date created	2009-07-13 17:52:28 +02:00 (CEST)
Date last edited	2019-08-02 19:23:04 +02:00 (CEST)

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