Global Variome shared LOVD

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Phenotype #0000238810 Individual ID 00315058 Associated disease kidney disease Diagnosis/Initial renal coloboma syndrome Diagnosis/Definite - Phenotype details Microphthalmia-unilateral; Optic nerve coloboma-unilateral; Renal hypoplasia-bilateral, normal VCUG; kidney renal biopsy: focal segmental glomerulosclerosis, mild mesangial hypercellularity, focal effacement of podocyte foot processes, marked atrophy of tubules, interstitial fibrosis, focal arteriosclerosis. Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis 2m Age/Onset - Phenotype/Onset - Owner name Matthew Bower Database submission license No license selected Created by Matthew Bower Date created 2011-06-18 04:06:31 +02:00 (CEST) Date last edited 2011-06-20 17:57:11 +02:00 (CEST)

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