Global Variome shared LOVD

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Phenotype #0000305767 Individual ID 00413802 Associated disease - Phenotype details VA(OD/OS): 1/10–7/10; Pale optic disc, narrow retinal vessels, widespread bone spicule pigmentation; Preserved outer retinal structures in macula, loss of outer nuclear layer in periphery; ; Speckled hypoautofluorescence, central ring of hyperautofluorescence around the macula Diagnosis/Initial nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 62y (62 years) Age/Diagnosis - Age/Onset 40y-49y 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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