Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000238863 Individual ID 00315111 Associated disease kidney disease Diagnosis/Initial renal coloboma syndrome Diagnosis/Definite - Phenotype details Cilioretinal vessels-bilateral; abnormal retinal vessels; Renal hypoplasia-bilateral, proteinuria; kidney hypertrophic glomeruli, atrophic tubules, hypertrophic tubules Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis 16y Age/Onset - Phenotype/Onset - Owner name Matthew Bower Database submission license No license selected Created by Matthew Bower Date created 2011-06-21 20:41:27 +02:00 (CEST) Date last edited N/A

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