Global Variome shared LOVD

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

Phenotype #0000239034 Individual ID 00315282 Associated disease kidney disease Diagnosis/Initial renal coloboma syndrome Diagnosis/Definite - Phenotype details bilateral optic nerve atrophy; showed bilateral hypoplastic kidneys; 0y-end stage renal disease; 8y-renal transplant 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 2016-09-20 15:34:48 +02:00 (CEST) Date last edited N/A

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