Global Variome shared LOVD

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

Phenotype #0000238865 Individual ID 00315113 Associated disease kidney disease Diagnosis/Initial renal coloboma syndrome Diagnosis/Definite - Phenotype details Abnormal retinal vessels;Maculopathy; amblyopia; optic pit; renal failure; kidney hypoplastic cortex, hypoplastic medulla, 2-5 layers of obsolete glomeruli, cortical cysts, atrophic tubules, hypertrophic tubules; 22y-end stage renal disease Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis 4y Age/Onset 4y Phenotype/Onset - Owner name Matthew Bower Database submission license No license selected Created by Matthew Bower Date created 2011-06-21 20:51:15 +02:00 (CEST) Date last edited 2012-01-12 19:48:09 +01:00 (CET)

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