X-linked deafness 2

Term ID

DOID:0111737

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. (2)

References

• MIM:304400
• ORDO:383

Ontology

Human Disease   ( DOID:0111737 )