Global Variome shared LOVD

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

Phenotype #0000129687 Individual ID 00164650 Associated disease STGD Phenotype details 22y-reduced visual acuity; extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades; 35y-ERG cone and rod responses significantly and equally reduced Diagnosis/Initial Stargardt disease Inheritance Familial, autosomal recessive Diagnosis/Definite STGD-1 Age/Examination 37y (37 years) Age/Diagnosis 35y Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-06-03 11:07:19 +02:00 (CEST) Date last edited 2018-06-04 08:29:14 +02:00 (CEST)

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