| Home Page |
| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 27-01-2010 |
| Symbol | DFN2 |
| Location | Xq22.3 |
| HGNC id | 2775 |
| Name | deafness, neurosensorineural congenital |
| Corresponding gene | PRPS1 |
| Other symbol(s) | DFNX5 |
| Main clinical features | profound, stable, postlingual nonsyndromic hearing impairment |
| Genetic determination | sex linked |
| Function/system disorder | ear |
| Type | disease |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|
| abnormal protein/loss of function
|
| |
| Remark(s) |
|