Phenotype #0000238852

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315100
Associated disease	kidney disease
Diagnosis/Initial	renal coloboma syndrome
Diagnosis/Definite	-
Phenotype details	Hearing loss-bilateral sensorineural and conductive; Optic nerve coloboma-bilateral; renal hypoplasia-bilateral, medullary sponge kidney, pyelonephritis; kidney medullary sponge kidney; 29y-end stage renal disease
Inheritance	Isolated (sporadic)
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 00:32:41 +02:00 (CEST)
Date last edited	2012-01-09 18:41:29 +01:00 (CET)

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