Global Variome shared LOVD

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Phenotype #0000057787 Individual ID 00078012 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Stargardt disease/Bulls-eye maculopathy; y12, OD: visual acuity 0.8, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.8, atrophy, and flecks predominantly restricted to the central region around the fovea; y13: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 1.3 OD, 1 OS. Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset 9y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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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