| Metadata | |
|---|---|
| ID | DOID:0111739 |
| Name | X-linked deafness 1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/20021999, https://www.ncbi.nlm.nih.gov/pubmed/8968763 |
| Xrefs | |
| Synonyms |
DFN2 [EXACT] DFNX1 [EXACT] X-linked sensorineural congenital deafness 2 [EXACT] |
| Parent Relationships |