Global Variome shared LOVD

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Phenotype #0000255925 Individual ID 00360520 Associated disease - Phenotype details visual acuity: 20/20 in both eyes. Fundus: normal optic disc, peripheral rerina, and retinal vessels in both eyes. Granularity of RPE in macula. Fluorescein angiogram: hyperfluorescent areas around fovea in both eyes. Diagnosis/Initial macular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Manon Peeters Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-06 16:50:09 +02:00 (CEST) Date last edited N/A

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