Global Variome shared LOVD

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Phenotype #0000258855 Individual ID 00363505 Associated disease - Phenotype details visual acuity R 0.5, L 0.4; bilateral attenuation of retinal arterioles, bone spicule like pigmentation in the mid-periphery retina, RPE degeneration, pale optic disc Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 28y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-29 10:58:03 +02:00 (CEST) Date last edited N/A

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