Global Variome shared LOVD

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Phenotype #0000294359 Individual ID 00401576 Associated disease - Phenotype details Both ears cochlear implant - 5 years, Temporal pallor of optic disc, PPA, narrow retinal vessels, peripheral retinal atrophy, normal macular reflex, minimal pigmentary changes Diagnosis/Initial Usher syndrome type 1 (USH1) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 2y 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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