Usher syndrome type IC/chromosome 11p associated (Usher syndrome type 1 Acadian variety)

Epidemiology

• most frequent cause of hereditary deaf-blindness in humans
• affects 1 child in 25,000

Genetics

• autosomal recessive disease
• associated with defects in harmonin gene

Clinical manifestations

• affects both the inner ear & the retina
• severe to profound congenital sensorineural deafness
• constant vestibular dysfunction
• retinitis pigmentosa with prepubertal onset

More general terms

• Usher syndrome type I

Database

• OMIM: https://mirror.omim.org/entry/276904
• OMIM: https://mirror.omim.org/entry/605242
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=10083