Global Variome shared LOVD

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Phenotype #0000305554 Individual ID 00413581 Associated disease - Phenotype details late-onset cone-rod dystrophy; reduced visual acuity (20/40), myopia, macular atrophy, pericentral ring scotomas, electroretinogram consistent with cone-rod dystrophy Diagnosis/Initial cone-rod dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite CORD24 Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset 40y Phenotype/Onset poor night vision, defective color vision, light sensitivity Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-19 14:18:03 +02:00 (CEST) Date last edited 2024-11-11 21:39:02 +01:00 (CET)

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