Conditions / Syndrome
Usher syndrome type 2A
info · Syndrome · ICD-10: H35.5
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 US
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.
Signs and symptoms
- Rod-cone dystrophy
- Congenital sensorineural hearing impairment
Also known as: USH2A; Usher syndrome type IIA