deafness autosomal dominant type 25
deafness autosomal dominant type 25
An autosomal dominant form (OMIM:605583) of nonsyndromic sensorineural deafness.Molecular pathology
Caused by defects of SLC17A8, which encodes a vesicle-bound glutamate transporter that transport glutamate into synaptic vesicles before its release into the synaptic cleft.