Global Variome shared LOVD

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Phenotype #0000350749 Individual ID 00465213 Associated disease - Phenotype details see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 0,18, OS 0,3; fundus abnormal reflex; ERG 17y-cone dystrophy Diagnosis/Initial reduced visual acuity Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 29y (29 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 18:05:06 +02:00 (CEST)

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