Phenotype #0000238934

Individual ID 00315182
Associated disease kidney disease
Diagnosis/Initial renal coloboma syndrome
Diagnosis/Definite -
Phenotype details Bilateral optic nerve colobomas; strabismus; nystagmus; Proteinuria at age 5, normal renal u/s, normal VCUG.; kidney atrophy of proximal and distal renal tubules, interstitial fibrosis, focal segmental glomerular sclerosis.
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis 5y
Age/Onset 0m
Phenotype/Onset -
Owner name Matthew Bower
Database submission license No license selected
Created by Matthew Bower
Date created 2011-06-23 20:32:04 +02:00 (CEST)
Date last edited 2012-01-09 18:15:34 +01:00 (CET)

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