Phenotype #0000239032

Individual ID 00315280
Associated disease kidney disease
Diagnosis/Initial renal coloboma syndrome
Diagnosis/Definite -
Phenotype details bilateral optic nerve atrophy; Proteinuria age 20, focal segmental glomerulosclerosis, slightly small kidneys with bilateral cysts; kidney one glomerulus was obsolescent and in another there was segmental sclerosis with hyaline deposits near the vascular pole, other glomeruli were slightly enlarged and had essentially minor changes, but in several segments a questionable increased mesangium was observed
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 20y
Phenotype/Onset -
Owner name Matthew Bower
Database submission license No license selected
Created by Matthew Bower
Date created 2016-09-20 15:28:13 +02:00 (CEST)
Date last edited 2016-09-20 15:28:44 +02:00 (CEST)

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