Usher syndrome type 2A
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Usher syndrome type 2A
- USH2A
- Usher syndrome type IIA
disease_ontology
DOID:0110838