| Disease ID | Source | Name | Description |
| 609006 | OMIM | Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) | A form of non-syndromic sensorineural 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. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. The disease is caused by variants affecting the gene represented in this entry. |
| 618632 | OMIM | Usher syndrome 1M (USH1M) | A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an autosomal recessive disease characterized by prelingual sensorineural hearing loss, vestibular dysfunction, night blindness, and progressive impairment of vision. The disease may be caused by variants affecting the gene represented in this entry. |