Global Variome shared LOVD

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Phenotype #0000307671 Individual ID 00415899 Associated disease - Phenotype details symptoms: decreased vision, nyctalopia; best corrected visual acuity: 20/60; refractive error: -7; fundus findings: retinal pigment epithelium atrophy; visual field findings: full; color vision abnormalities: normal; documented progression of conditi Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram Age/Examination 40y (40 years) Age/Diagnosis - Age/Onset 4y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-17 13:46:03 +02:00 (CEST) Date last edited N/A

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