Global Variome shared LOVD

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Phenotype #0000294400 Individual ID 00401617 Associated disease - Phenotype details Areflexia, no cochlear implantSlightly waxy optic nerve, narrow retinal vessels, retinal atrophy encroaching the fovea in RE and involving the fovea in LE, Bronze-beaten appearance, few BSPs Diagnosis/Initial Usher syndrome type 1 (USH1) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 55y (55 years) Age/Diagnosis - Age/Onset - 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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