Global Variome shared LOVD

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Phenotype #0000294217 Individual ID 00401174 Associated disease USH Diagnosis/Initial - Diagnosis/Definite Usher syndrome type 2A Phenotype details pure-tone audiometry: binaural moderate to severe deafness with sloping audiograms, increased thresholds across all frequencies (left ear: 68.3 dB; right ear: 66.7 dB); air-bone gap value: > 10 dB which eqals mixed deafness (both sensorineural and conductive defects). The proband reported normal vision and declined ophthalmic examination (may still develop symptoms, so Usher syndrome is plausible) Inheritance Isolated (sporadic) Age/Examination 5y (5 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 2022-01-28 14:07:59 +01:00 (CET) Date last edited N/A

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