deafness autosomal recessive type 18

deafness autosomal recessive type 18

An autosomal recessive condition OMIM:602092 characterised by profound, prelingual, nonsyndromic sensorineural deafness. 
Molecular pathology
Caused by defects of USH1C, which encodes a scaffold protein that plays a role in assembling Usher protein complexes and is required for normal hearing.