Global Variome shared LOVD

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Phenotype #0000055830 Individual ID 00076055 Associated disease STGD1 Phenotype details Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.1/0.1, RPE Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 20y Phenotype/Onset any symptom of visual impairment 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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