| Disease ID | Source | Name | Description |
| 610246 | OMIM | Spinocerebellar ataxia 28 (SCA28) | Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment. The disease is caused by variants affecting the gene represented in this entry. |
| 614487 | OMIM | Spastic ataxia 5, autosomal recessive (SPAX5) | A neurodegenerative disorder characterized by early onset spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. The disease is caused by variants affecting the gene represented in this entry. |
| 618977 | OMIM | Optic atrophy 12 (OPA12) | An autosomal dominant disease characterized by 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. OPA12 patients manifest slowly progressive visual impairment with onset usually in the first decade. Some patients may exhibit additional features including impaired intellectual development, dystonia, movement disorders, or ataxia. The disease is caused by variants affecting the gene represented in this entry. |