Phenotype #0000238862

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315110
Associated disease	kidney disease
Diagnosis/Initial	renal coloboma syndrome
Diagnosis/Definite	-
Phenotype details	Optic disc dysplasia; Peripapillary atrophy; abnormal retinal vessels; bilateral renal hypoplasia; kidney thin cortex, hypoplastic papillae, cortical cysts, medullary cysts; 32y-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 20:37:05 +02:00 (CEST)
Date last edited	2011-06-21 20:42:17 +02:00 (CEST)

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