Global Variome shared LOVD

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

Phenotype #0000057562 Individual ID 00077787 Associated disease STGD1 Phenotype details Stargardt disease; y38: Visual acuity OD 0.3 logMAR, OS 0 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 36y Phenotype/Onset visual loss or the latest examination for asymptomatic patients. 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

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