| Disease ID | Source | Name | Description |
| 617717 | OMIM | Auditory neuropathy and optic atrophy (ANOA) | An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. The disease is caused by variants affecting the gene represented in this entry. |