X-linked deafness 1 (DOID:0111739)
Alliance: disease page
Synonyms: DFN2; DFNX1; X-linked sensorineural congenital deafness 2
Alt IDs: OMIM:304500
Definition: An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3.