Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000238889 Individual ID 00315137 Associated disease kidney disease Diagnosis/Initial renal coloboma syndrome Diagnosis/Definite - Phenotype details short stature; optic nerve coloboma-bilateral; enlarged optic disc-bilateral; renal hypoplasia-bilateral, echogenic kidneys, Poor corticomedullary differentiation, vesicoureteral reflux; 32w-pre-term delivery; 1y-renal transplant Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis 0m Age/Onset 0m Phenotype/Onset - Owner name Matthew Bower Database submission license No license selected Created by Matthew Bower Date created 2011-06-22 02:37:32 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.