Phenotype #0000238874

Individual ID 00315122
Associated disease kidney disease
Diagnosis/Initial renal coloboma syndrome
Diagnosis/Definite -
Phenotype details Optic nerve coloboma-bilateral; Proteinuria, renal failure; developmental delay; prenatal glomerular enlargement; collapse of glomerular capillaries; mesangial matrix expansion, tubulointerstitial change; 12y-end stage renal disease
Inheritance Familial
Age/Examination -
Age/Diagnosis -
Age/Onset 7y
Phenotype/Onset -
Owner name Matthew Bower
Database submission license No license selected
Created by Matthew Bower
Date created 2011-06-21 21:45:09 +02:00 (CEST)
Date last edited 2012-01-13 02:35:11 +01:00 (CET)

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