Global Variome shared LOVD

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Phenotype #0000350747 Individual ID 00465211 Associated disease - Phenotype details see paper; ..., reduced visual acuity, light sensitivity; onset early childhood; visiual acuity (LogMAR) OD 1,3, OS 1,1; fundus early macular atrophy; ERG 47y-cone-rod dystrophy Diagnosis/Initial reduced visual acuity, light sensitivity Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 47y (47 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 18:03:53 +02:00 (CEST)

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