Global Variome shared LOVD

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Phenotype #0000294362 Individual ID 00401579 Associated disease - Phenotype details Both ears cochlear implant - 44 years, BE cataract extraction 38 YO, Normal optic disc, narrow retinal vessels, diffuse retinal atrophy encroaching the fovea, ring shaped RPE atrophic changes around the fovea. RE inferior chorioretinal atrophic patch, LE pigmented patch superior to fovea Diagnosis/Initial Usher syndrome type 1 (USH1) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 54y (54 years) Age/Diagnosis - Age/Onset 15y Phenotype/Onset Night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-02-01 10:38:45 +01:00 (CET) Date last edited N/A

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