Human genes for Usher syndrome type 2A
Usher syndrome type 2A [DOID:0110838]
An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.
Synonyms: Usher syndrome type 2A, DOID:0110838, Usher syndrome type IIA, Usher syndrome type IIAs