Global Variome shared LOVD

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Phenotype #0000298779 Individual ID 00406281 Associated disease - Phenotype details best corrected visual acuity right/left eye: 0.4/0.1, spherical refraction right/left eye: -1.75D/-2.75D, fundus: mild retinal pigment epithelium abnormalities at the macula, optical coherence tomography total retinal thickness right/left eye: 120/120, color vision: no specific, electroretinography: dominantly cone reducti Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite cone-rod dystrophy Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-03-27 15:44:55 +02:00 (CEST) Date last edited N/A

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