Usher syndrome type 1B/myosin VIIA mutation associated

Genetics

• associated with defects in myosin 7A

Clinical manifestations

• Usher syndrome type 1 is characterized by profound congenital sensorineural deafness, absent vestibular function & prepubertal onset of progressive retinitis pigmentosa leading to blindness

More general terms

• Usher syndrome type I

Database

• OMIM: https://mirror.omim.org/entry/276900
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4647