Phenotype #0000238864

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315112
Associated disease	kidney disease
Diagnosis/Initial	renal coloboma syndrome
Diagnosis/Definite	-
Phenotype details	Optic disc excavation-unilateral; Optic pit; Cilioretinal vessels-bilateral; abnormal retinal vessels; maculopathy; bilateral renal hypoplasia; 33y-end stage renal disease
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Matthew Bower
Database submission license	No license selected
Created by	Matthew Bower
Date created	2011-06-21 20:47:07 +02:00 (CEST)
Date last edited	N/A

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