Usher syndrome type IIC

Pathology

• retinitis pigmentosa
• sensorineural deafness

Genetics

• autosomal recessive
• associated with defects in MASS1 gene

Clinical manifestations

• moderate to severe deafness
• no vestibular dysfunction

More general terms

• Usher syndrome type II

Additional terms

• very-large G protein-coupled receptor; monogenic audiogenic seizure susceptibility 1; Usher syndrome type-2C protein; G-protein coupled receptor 98 (VLGR1; MASS1, GPR98, KIAA0686, VLGR1)

Database

• OMIM: https://mirror.omim.org/entry/605472
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=56830