Phenotype #0000238813

Individual ID 00315061
Associated disease kidney disease
Diagnosis/Initial renal coloboma syndrome
Diagnosis/Definite -
Phenotype details Optic nerve coloboma-bilateral; esodeviation; retinal edema; chorioretinal degeneration; Macular telangiectases-bilateral; renal hypoplasia-bilateral, renal cyst-unilateral, normal VCUG; 13y-end stage renal disease; 15y-renal transplant
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis 7y
Age/Onset -
Phenotype/Onset -
Owner name Matthew Bower
Database submission license No license selected
Created by Matthew Bower
Date created 2011-06-18 04:39:44 +02:00 (CEST)
Date last edited 2011-06-20 19:55:37 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.