Global Variome shared LOVD

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Phenotype #0000263696 Individual ID 00368358 Associated disease - Phenotype details At the age of 7, the visual acuity was 0.07/0.05 (OD/OS). The fundus showed: attenuated retinal arteries;tapetal-like retinal degeneration. ERG response of the rods was: Extinguished and of the cones was Extinguished. Diagnosis/Initial retinitis pigmentosa Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 7y Phenotype/Onset poor vision Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +02:00 (CEST) Date last edited N/A

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