X-linked deafness 1; congenital sensorineural deafness X-linked 2 (DFN2)

Genetics

• X-linked
• associated with defects in PRPS1

Clinical manifestations

• progressive, severe-to-profound sensorineural hearing loss in males
• females manifest mild to moderate hearing loss

More general terms

• X-linked deafness

Database

• OMIM: https://mirror.omim.org/entry/304500