Global Variome shared LOVD

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Phenotype #0000291572 Individual ID 00398451 Associated disease - Phenotype details reduced peripheral vision; 35y: legally blind, 47y: rapid deterioration in PV, 49y: started using a cane Diagnosis/Initial retinitis pigmentosa (RP) Inheritance Familial, X-linked recessive Diagnosis/Definite Choroidermia (CHM) Age/Examination 28y (28 years) Age/Diagnosis 34y Age/Onset 53y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-01-05 04:00:26 +01:00 (CET) Date last edited N/A

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