Global Variome shared LOVD

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

Phenotype #0000238987 Individual ID 00315235 Associated disease kidney disease Diagnosis/Initial renal coloboma syndrome Diagnosis/Definite - Phenotype details Bilateral hearing loss, abnormal ear helices; Right optic nerve dysplasia, excavation of optic disc. Left eye normal; Proteinuria age 1. Hypoplastic hyperechoic kidneys.; kidney the renal biopsy identified ten enlarged glomeruli and signs of secondary segmental and focal glomerulosclerosis; 1y-end stage renal disease Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Matthew Bower Database submission license No license selected Created by Matthew Bower Date created 2013-01-30 18:42:05 +01:00 (CET) Date last edited N/A

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