Global Variome shared LOVD

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Phenotype #0000294368 Individual ID 00401585 Associated disease - Phenotype details no cochlear implant, Waxy optic disc. narrow retinal vessels, diffuse chorioretinal atrophy with few BSPs in the far periphery Diagnosis/Initial Usher syndrome type 1 (USH1) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset 12y Phenotype/Onset - 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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