X-linked deafness 2 (DOID:0111737)
Alliance: disease page
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
Alt IDs: OMIM:304400, ORDO:383
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.