Phenotype #0000124831

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152488
Associated disease	MDC
Phenotype details	Microcephaly; White matter abnormalities; CPK increased; intellectual disability (HP:0001249); onset neonatal; able to sit
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	congenital hypotonia
Protein	IHC: alfa-DAG reduced
Owner name	Rosário dos Santos
Database submission license
Created by	Johan den Dunnen
Date created	2009-02-27 14:46:24 +01:00 (CET)
Date last edited	2012-03-09 18:27:00 +01:00 (CET)

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