Phenotype #0000125295

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00102536
Associated disease	MDC
Phenotype details	Abnormality of the cerebral white matter (HP:0002500)
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	muscle, IHC for LAMA2, deficiency
Owner name	Tom Winder
Database submission license	No license selected
Created by	Tom Winder
Date created	2012-02-20 17:45:15 +01:00 (CET)
Date last edited	2019-08-02 19:23:04 +02:00 (CEST)

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