Phenotype #0000124723

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152380
Associated disease	WWS
Phenotype details	Brain and ocular involvement; contractures, bilateral kidney dysplasia; onset neonatal
Diagnosis/Initial	Walker-Warburg syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MDDGA-1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	severe neonatal hypotonia
Protein	-
Owner name	Rosário dos Santos
Database submission license	No license selected
Created by	Rosário dos Santos
Date created	2009-03-25 18:02:16 +01:00 (CET)
Date last edited	2012-03-04 16:08:34 +01:00 (CET)

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