Global Variome shared LOVD

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Phenotype #0000303100 Individual ID 00411010 Associated disease - Phenotype details central/steady/maintained vision in either eye, 18-prism diopters oesotropia at distance and near, and a cycloplegic refraction of +5.75– 1.506180 OD (right eye), +6.0021.506180 OS (left eye). Both eyes had an unhealthy retinal pigment epithelium (RPE) appearance with subfoveal lesions OU Diagnosis/Initial enhanced S-cone syndrome (ESCS) Inheritance Unknown Diagnosis/Definite - Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset poor night vision Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-05-31 18:45:49 +02:00 (CEST) Date last edited N/A

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