Global Variome shared LOVD

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Phenotype #0000054951 Individual ID 00075176 Associated disease STGD1 Phenotype details Stargardt disease; bilateral impairment of central vision, appearance of perimacular and peripheral flecks and pigment clumping nasal to the optic disk, moderate fundus changes, both eyes exhibited extensive central retinal pigment epithelium atrophy Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 10y 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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