Global Variome shared LOVD

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Phenotype #0000321612 Individual ID 00431004 Associated disease - Phenotype details see paper; ..., no cataract; Bull's eye; ffERG mild rod-cone dystrophy; no sensorineural hearing loss; no vestibular symptoms Diagnosis/Initial Usher syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-01-25 15:27:06 +01:00 (CET) Date last edited N/A

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