Global Variome shared LOVD

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Phenotype #0000293336 Individual ID 00400296 Associated disease USH Diagnosis/Initial - Diagnosis/Definite Usher syndrome type 2A Phenotype details fundus appearance: typical retinitis pigmentosa changes, night blindness, electroretinogram: no reaction, hearing impairment: severe, vestibular function normal Inheritance Familial, autosomal recessive Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-26 15:02:26 +01:00 (CET) Date last edited N/A

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