Global Variome shared LOVD

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Phenotype #0000224136 Individual ID 00296735 Associated disease - Phenotype details 10y-nyctalopia (HP:0000662), 37 reduced central vision (HP:0007663); logMAR R 0.3 (20/40), L 0.3 (20/40); refraction R pseudophakic, L -1.25/-0.75 x180; fundus optic disc pallor (HP:0000543), attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), atrophic patches (HP:0001099); fields to confrontation less than 10 degrees, Ishihara 17/17 each eye (HP:0030586) Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP77 Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-11 19:49:19 +02:00 (CEST) Date last edited N/A

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