Global Variome shared LOVD

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Phenotype #0000273391 Individual ID 00379518 Associated disease - Phenotype details Normal optic disc, normal vasculature, abnormal macular and foveal reflexes, and perimacular ring of pigmentary changes. Numerous white dots along vascular curve in a radial-lined pattern. Diagnosis/Initial Fundus albipunctatus (FAP)with maculopathy Inheritance Unknown Diagnosis/Definite - Age/Examination 47y (47 years) Age/Diagnosis - Age/Onset 47y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-08-05 00:17:46 +02:00 (CEST) Date last edited N/A

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