Global Variome shared LOVD

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Phenotype #0000258854 Individual ID 00363504 Associated disease - Phenotype details visual acuity R 0.2, L hand movement; bilateral retinal vascular attenuation, bone spicule like pigmentation throughout the fundus, chorioretinal degeneration, pale optic disc Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 51y (51 years) Age/Diagnosis - Age/Onset 25y 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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