| Disease ID | Source | Name | Description |
| 616289 | OMIM | Optic atrophy 9 (OPA9) | A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number 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. |
| 614559 | OMIM | Infantile cerebellar-retinal degeneration (ICRD) | A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration. The disease is caused by variants affecting the gene represented in this entry. |