conductive deafness 3 with stapes fixationmixed deafness with perilymphatic gusherX-linked deafness type 2X-linked mixed conductive and sensorineural deafnessDFN3X-linked sensorineural deafnessNance deafnessX-linked mixed conductive and neurosensory hearing lossX-linked mixed conductive and sensorineural hearing lossX-linked stapes gusher syndromeDFNX2X-linked mixed conductive and neurosensory deafnessconductive deafness with stapes fixation
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.