Notation for gene for Usher type 1C syndrome.
Farlex Partner Medical Dictionary © Farlex 2012
Usher syndrome, type 1CA heterogeneous condition (OMIM:276904) characterised by profound congenital sensorineural deafness, absent vestibular function, and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
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.