| Disease ID | Source | Name | Description |
| 600652 | OMIM | Deafness, autosomal dominant, 4A (DFNA4A) | 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. The disease is caused by variants affecting the gene represented in this entry. |
| 614369 | OMIM | Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) | A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles. The disease is caused by variants affecting the gene represented in this entry. |