Global Variome shared LOVD

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Phenotype #0000293228 Individual ID 00400188 Associated disease USH Diagnosis/Initial hearing loss, sensorineural Diagnosis/Definite Usher syndrome type 2 Phenotype details Hearing threshold (dB) right/left ear: 75/78, speech discrimination (%) right/left ear: 28/24 , configuration: down-sloping, best-corrected visual acuity right/left eye: 20/125 /20/100 diffuse retinal degeneration, electroretinography: extinction , visual field: central island, subjective dizziness: none, vestibular function: normal Inheritance Familial, autosomal recessive Age/Examination 46y (46 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 2022-01-25 10:50:12 +01:00 (CET) Date last edited N/A

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