Disease ID | Source | Name | Description |
618013 | OMIM | Deafness, autosomal recessive, 109 (DFNB109) | A form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement. The disease is caused by variants affecting the gene represented in this entry. |