Term Name: | X-linked deafness 1 |
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Synonyms: | DFN2, DFNX1, X-linked sensorineural congenital deafness 2 |
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. |
Ontology: | Human Disease [DOID:0111739] ( DOID:0111739 ) |