Phenotype #0000238865

Individual ID 00315113
Associated disease kidney disease
Diagnosis/Initial renal coloboma syndrome
Diagnosis/Definite -
Phenotype details Abnormal retinal vessels;Maculopathy; amblyopia; optic pit; renal failure; kidney hypoplastic cortex, hypoplastic medulla, 2-5 layers of obsolete glomeruli, cortical cysts, atrophic tubules, hypertrophic tubules; 22y-end stage renal disease
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis 4y
Age/Onset 4y
Phenotype/Onset -
Owner name Matthew Bower
Database submission license No license selected
Created by Matthew Bower
Date created 2011-06-21 20:51:15 +02:00 (CEST)
Date last edited 2012-01-12 19:48:09 +01:00 (CET)

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