Global Variome shared LOVD

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Phenotype #0000347481 Individual ID 00459403 Associated disease macular dystrophy Phenotype details see paper; ..., 19y-blurry vision; acne; central thickening, retinal pigment epithelium mottling; macula intraretinal cysts inner/outer retina, focal loss laminar structures areas diffuse disruption macula Diagnosis/Initial decreased vision Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-12-24 17:46:47 +01:00 (CET) Date last edited N/A

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