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)

Global Variome shared LOVD