Global Variome shared LOVD

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Phenotype #0000350752 Individual ID 00465216 Associated disease - Phenotype details see paper; ..., reduced visual acuity, Turner Syndrome; onset early childhood; visiual acuity (LogMAR) OD 0,6, OS 0,6; fundus early macular atrophy; ERG 19y-cone dystrophy Diagnosis/Initial reduced visual acuity, Turner Syndrome Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 19y (19 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 18:06:40 +02:00 (CEST)

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