Global Variome shared LOVD

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Phenotype #0000238869 Individual ID 00315117 Associated disease kidney disease Diagnosis/Initial renal coloboma syndrome Diagnosis/Definite - Phenotype details Optic nerve coloboma-bilateral; nystagmus; renal hypoplasia-bilateral, increased parenchymal echogenicity by ultrasound, cystic lesion in one kidney, normal VCUG; 10y-end stage renal disease; 10y-renal transplant Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis 1y Age/Onset 1y Phenotype/Onset - Owner name Matthew Bower Database submission license No license selected Created by Matthew Bower Date created 2011-06-21 21:17:05 +02:00 (CEST) Date last edited 2012-01-13 02:17:49 +01:00 (CET)

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