Global Variome shared LOVD

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Phenotype #0000058061 Individual ID 00078286 Associated disease STGD1 Phenotype details Stargardt disease; y10, best corrected visual acuity was 20/200 for both eyes. Macular granularity and pigmentary atrophic changes were evident in the macular area. Atrophic changes in the macular region surrounded by numerous hypofluorescent flecks to the midperiphery. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 5y Phenotype/Onset progressive vision loss 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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