Phenotype #0000124717

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152374
Associated disease	WWS
Phenotype details	no signs of psychomotor development, gradual development hypertensive hydrocephalus; eye dense opacities of anterior parts, glaucoma, buphthalmus; cysts both kidneys; CPK 5292
Diagnosis/Initial	Walker-Warburg syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MDDGA-1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	0d
Phenotype/Onset	adynamic, hypotonic
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-05-20 12:41:46 +02:00 (CEST)
Date last edited	N/A

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