Global Variome shared LOVD

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Phenotype #0000326911 Individual ID 00436810 Associated disease RD Phenotype details fundus macular atrophy; FF-ERG scotopic in normal rangei, photopic a-wave in normal range/b-wave mildly reduced; fundus central ring mottled hypoautofluorescence, surrounded by hyperautofluorescent ring; OCT central outer retinal loss both eyes Diagnosis/Initial macular dystrophy with cone dysfunction Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 38y (38 years) Age/Diagnosis 35y Age/Onset - Phenotype/Onset - Protein benyosef Owner name Tamar Ben-Yosef Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Tamar Ben-Yosef Date created 2023-10-09 09:28:07 +02:00 (CEST) Date last edited 2024-02-16 13:45:33 +01:00 (CET)

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