Global Variome shared LOVD

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Phenotype #0000317901 Individual ID 00426747 Associated disease - Phenotype details VA:0.9 in the right eye; mild attenuation of the retinal vessels and a mottled appearance of the retinal pigment epithelium Diagnosis/Initial autosomal dominant retinitis pigmentosa (adRP) Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset retinoblastoma in the left eye, and the eye was enucleated Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-12-02 14:17:29 +01:00 (CET) Date last edited N/A

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