Phenotype #0000124836

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152493
Associated disease	WWS
Phenotype details	Brain and ocular involvement; tower skull deformity; CPK 2000; onset neonatal
Diagnosis/Initial	Walker-Warburg syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MDDGA-2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	severe neonatal hypotonia
Protein	-
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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