Global Variome shared LOVD

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Phenotype #0000350750 Individual ID 00465214 Associated disease - Phenotype details see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 0,6, OS 0,6; fundus early macular atrophy; ERG 24y-macular dystrophy Diagnosis/Initial reduced visual acuity Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 23y (23 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 2025-04-14 16:37:07 +02:00 (CEST) Date last edited 2025-04-14 18:05:33 +02:00 (CEST)

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