Phenotype #0000124691

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152348
Associated disease	MDC
Phenotype details	Cerebellar hypoplasia, periventricular WM changes; CPK 15x; able to sit
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	-
Inheritance	Familial
Age/Examination	-
Age/Diagnosis	17y
Age/Onset	-
Phenotype/Onset	-
Protein	IHC reduced DAG1
Owner name	Rosário dos Santos
Database submission license	No license selected
Created by	Rosário dos Santos
Date created	2008-06-06 18:42:22 +02:00 (CEST)
Date last edited	2012-03-04 15:57:50 +01:00 (CET)

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