Term Name: | X-linked deafness 2 |
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Synonyms: | conductive deafness 3 with stapes fixation, conductive deafness with stapes fixation, DFN3, DFNX2, mixed deafness with perilymphatic gusher, Nance deafness, X-linked deafness type 2, X-linked mixed conductive and neurosensory deafness, X-linked mixed conductive and neurosensory hearing loss, X-linked mixed conductive and sensorineural deafness, X-linked mixed conductive and sensorineural hearing loss, X-linked sensorineural deafness, X-linked stapes gusher syndrome |
Definition: | An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. |
Ontology: | Human Disease [DOID:0111737] ( DOID:0111737 ) |