Global Variome shared LOVD

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

Phenotype #0000055496 Individual ID 00075721 Associated disease STGD1 Phenotype details Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/200, OS 20/200 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 26y Phenotype/Onset - Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited N/A

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