Usher syndrome, type 1C

(redirected from Usher syndrome type-I Acadian variety)

Usher syndrome, type 1C

A heterogeneous condition (OMIM:276904) characterised by profound congenital sensorineural deafness, absent vestibular function, and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

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.
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