Global Variome shared LOVD

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Phenotype #0000268932 Individual ID 00373707 Associated disease HL Phenotype details postlingual nonsyndromic hearing loss age onset 3y–7y males, initially, moderate hearing loss, especially high frequencies, progresses with age, affects all frequencies later; age onset second-third decade female carriers, patients present with severe hearing loss after 10–15 years; vestibular function was normal, and tinnitus was not reported by the affected individuals. No signs of a conductive hearing loss-component (no air-bone gaps) in pure-tone audiometry indicates normal middle-ear function; computed tomography, magnetic resonance imaging and digital volume tomography show normal middle-ear cavity with regular ossicles, normal mastoid, no signs of malformation; regular inner-ear structures had fluid-filled, normally shaped cochlea allowing later treatment by cochlear implantation Diagnosis/Initial hearling loss Inheritance Familial, X-linked dominant Diagnosis/Definite DFNX4 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-18 19:37:17 +02:00 (CEST) Date last edited N/A

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