Global Variome shared LOVD

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Phenotype #0000255399 Individual ID 00359994 Associated disease - Phenotype details Fundus: fleck type subretinal vitelliform depositions in the macula. FAF: hyperautofluorescent patterns corresponded to subretinal depositions which were clearly appreciated throughout the posterior pole. OCT: only subretinal or above RPE deposition without retinal atrophy. Diagnosis/Initial macular pattern 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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