Phenotype #0000002862

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00004068
Associated disease	MDDGA7
Phenotype details	Walker-Warburg syndrome (WWS); MRI hydrocephalus with marked thinning cortex, cobblestone lissencephaly, brain stem atrophy; bilateral microphthalmia with cataract, persistent hyperplastic primary vitreous, retinal detachment
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
CK-level	5400
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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