Global Variome shared LOVD

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Phenotype #0000276639 Individual ID 00382783 Associated disease - Phenotype details night blindness in childhood (3y), round punctate white deposits in the midperipheral retina (9y), fewer such lesions in the posterior pole, and normal optic disc, fovea, and retinal vessels Diagnosis/Initial Retinitis Punctata Albescens Inheritance Familial Diagnosis/Definite - Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset 3y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-09-13 01:01:20 +02:00 (CEST) Date last edited N/A

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