Global Variome shared LOVD

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Phenotype #0000321608 Individual ID 00431000 Associated disease - Phenotype details see paper; ..., no cataract; foveal sparing atrophy; ffERG moderate rod-cone dystrophy; 50y-moderate sensorineural hearing loss, unclear progression; no vestibular symptoms Diagnosis/Initial atypical Usher syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite USH4 Age/Examination - Age/Diagnosis - Age/Onset 65y 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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