Global Variome shared LOVD

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Phenotype #0000293272 Individual ID 00400233 Associated disease USH Diagnosis/Initial - Diagnosis/Definite Usher syndrome type 2A Phenotype details best-corrected visual acuity right/left eye (OD/OS): 0.4/0.2, cataract: yes (34y), macular degeneration: mild, optic disc: waxy, artery attenuation, pigment deposits, electroretinography: diminished<35deg/<30deg, hearing undetectable (age): yes (borny) Inheritance Familial, autosomal recessive Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset - Phenotype/Onset Hearing undetectable (borny) 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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