Global Variome shared LOVD

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Phenotype #0000116623 Individual ID 00143845 Associated disease - Phenotype details photoreceptor dystrophy, but the cones were more severly affected than were the rods. This is also reflected by the central scotomas on the kinetic visual field. Fundus abnormalities included central abnormalities at the level of the RPE and moderate attenuation of the retinal vessels Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 28y Phenotype/Onset - Protein - Owner name Rob W.J. Collin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-11-28 22:45:32 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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