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.Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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