Phenotype #0000124584

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152241
Associated disease	WWS
Phenotype details	hydrocephalus, cobblestone lissencephaly with agyria and agenesis corpus callosum, hypoplasia cerebellar vermis in posterior cranial fossa, buphthalmos, retinal dysplasia, lens opacities; CPK >3500
Diagnosis/Initial	Walker-Warburg syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MDDGA-1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2006-05-14 14:34:02 +02:00 (CEST)
Date last edited	2012-03-10 10:37:27 +01:00 (CET)

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