autosomal recessive neurosensory deafness 4 (vestibular aqueduct syndrome, DFNB4)

Pathology

• sensorineural deafness
• enlarged vestibular aqueduct

Genetics

• autosomal recessive
• linked to pendrin (SLC26A4)

Laboratory

• SLC26A4 gene mutation

More general terms

• autosomal recessive neurosensory deafness

Database

• OMIM: https://mirror.omim.org/entry/600791
• OMIM: https://mirror.omim.org/entry/603545