Usher syndrome, type 2A [Supplementary Concept]
A type of Usher Syndrome characterized by moderate to severe sensorineural hearing loss with normal vestibular response and progressive retinitis pigmentosa. It is the most common form of Usher Syndrome, accounting for 70% of cases and is associated with mutations in the USH2A and PDZD7 genes. OMIM: 276901
Date introduced: August 25, 2010
MeSH Unique ID: C536490
Heading Mapped to:
Entry Terms:
- USH2A Usher syndrome 2a
- Usher Syndrome, Type IIA