Usher syndrome type 2A (DOID:0110838)
Alliance: disease page
Synonyms: USH2A; Usher syndrome type IIA
Alt IDs: OMIM:276901, ICD10CM:H35.5
Definition: 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.