Global Variome shared LOVD

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Phenotype #0000057527 Individual ID 00077752 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details ABCA4-related retinal disease; y8: visual acuity OD 1.08(LogMAR), OS 1.0(LogMAR), atrophic-appearing foveal lesion(s) with or without perifoveal yellowish-white deposits. Inheritance Familial Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset visual loss or the age at the latest examination for patients who were asymptomatic 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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