Global Variome shared LOVD

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Phenotype #0000305765 Individual ID 00413800 Associated disease - Phenotype details VA(OD/OS): 4/10–4/10; Rose-colored optic disc, narrowed retinal vessels, rare bone spicule pigmentation; Preserved retinal layers in fovea, small intraretinal cystic changes perifoveal region; Nondetectable rod response, reduced cone response; Perifoveal ring of high density and reduced autofluorescence in the periphery Diagnosis/Initial nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 58y (58 years) Age/Diagnosis - Age/Onset 30y-39y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-07-22 03:34:11 +02:00 (CEST) Date last edited N/A

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