Phenotype #0000238997

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315245
Associated disease	kidney disease
Diagnosis/Initial	renal coloboma syndrome
Diagnosis/Definite	-
Phenotype details	Renal coloboma syndrome; Optic disc coloboma; macular hypoplasia; Unilateral renal hypoplasia, vesicoureteral reflux, ; kidney glomeruli had diffuse thickening accompanied by a basket- weave formation of the gbm, which was compatible with alport syndrome.
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	0y
Phenotype/Onset	-
Owner name	Matthew Bower
Database submission license	No license selected
Created by	Matthew Bower
Date created	2013-05-13 03:17:27 +02:00 (CEST)
Date last edited	2013-05-13 03:21:31 +02:00 (CEST)