Global Variome shared LOVD

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Phenotype #0000055837 Individual ID 00076062 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, visual acuity 0.16/0.125, Consanguinity Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 21y Phenotype/Onset unknown 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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