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.