Global Variome shared LOVD

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Phenotype #0000300124 Individual ID 00407994 Associated disease - Phenotype details best corrected visual acuity right; left eye: 20/125; 20/125 (70y), visual field: III4e 132deg, I4e 57deg right eye; III4e 130deg, I4e 70deg left eye, electroretinography: Moderate rod and cone dysfunction both eyes (61y) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early onset retinal degeneration Age/Examination - Age/Diagnosis - Age/Onset 11y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-11 18:59:20 +02:00 (CEST) Date last edited N/A

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