Global Variome shared LOVD

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Phenotype #0000293292 Individual ID 00400253 Associated disease USH Diagnosis/Initial - Diagnosis/Definite Usher syndrome type 2A Phenotype details best-corrected visual acuity right/left eye (OD/OS): 0.25/0.1, cataract: yes (35y), macular degeneration: severe, optic disc: waxy, artery attenuation, pigment deposits, electroretinography: signi���cantly reduced<15deg/<20deg, hearing undetectable (age): y Inheritance Familial, autosomal recessive Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset - Phenotype/Onset nyctalopia (11y) Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-26 14:10:36 +01:00 (CET) Date last edited N/A

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