Phenotype #0000095069

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00122815
Associated disease	DMD
Phenotype details	intellectual disability, severe (HP:0010864); loss ability to walk (HP:0006957) 8y; autistic behaviour
Diagnosis/Initial	dystrophy, muscular, Duchenne type (DMD)
Inheritance	Familial, X-linked
Diagnosis/Definite	DMD
Age/Examination	12y (12 years)
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	-
Protein	WB no DMD
Owner name	Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
Database submission license
Created by	Johan den Dunnen
Date created	2006-06-27 13:10:00 +02:00 (CEST)
Date last edited	2012-03-04 15:56:11 +01:00 (CET)

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