Global Variome shared LOVD

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Phenotype #0000300093 Individual ID 00407963 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/125, 20/125, refraction right/left eye: +3 / +3.5, maculae: maculopathy, electroretinography: nondetectable, kinetic perimetry (extent in eccentricity to the largest extent of the central isopter (Goldmann V-4e target) right/left eye: 8 / 9, foveal thickness (um) right/left eye: 130 / 133 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal degeneration Age/Examination 11y (11 years) Age/Diagnosis 1y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-11 15:08:36 +02:00 (CEST) Date last edited N/A

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