Global Variome shared LOVD

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

Phenotype #0000238937 Individual ID 00315185 Associated disease kidney disease Diagnosis/Initial renal coloboma syndrome Diagnosis/Definite - Phenotype details excavated papilla bilateral + left colobomatous slit; medullar and cortical cysts (one large and septated), CRF (creatinine 120microM) 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 2011-06-27 17:40:51 +02:00 (CEST) Date last edited 2012-01-09 18:08:24 +01:00 (CET)

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