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Usher syndrome type 1G
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.
Uniprot Description USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.