Phenotype #0000125107

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00102666
Associated disease	MDC
Phenotype details	dystrophy, muscular, congenital; Muscle biopsy showed presence of dystrophic features, white matter changes on MRI.
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	Laminin a2 absent
Owner name	Jaya Punetha
Database submission license	No license selected
Created by	Jaya Punetha
Date created	2015-12-10 17:23:39 +01:00 (CET)
Date last edited	2019-08-02 19:23:04 +02:00 (CEST)

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