Phenotype #0000002867

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00004073
Associated disease	MDDGA7
Phenotype details	Walker-Warburg syndrome (WWS); MRI cobblestone lissencephaly with partial pachygyria, hydrocephalus, partial agenesis of corpus callosum, brainstem hypoplasia, cerebellar hypoplasia; unilateral congenital cataract, focal corneal
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
CK-level	6126
Protein	DAG1 IIH6 negative
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-05-20 10:48:47 +02:00 (CEST)
Date last edited	N/A

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