| Disease ID | Source | Name | Description |
| 133190 | OMIM | Spinocerebellar ataxia 34 (SCA34) | A form of spinocerebellar ataxia, 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. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis. The disease is caused by variants affecting the gene represented in this entry. |
| 614457 | OMIM | Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR) | A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. The disease is caused by variants affecting the gene represented in this entry. |
| 600110 | OMIM | Stargardt disease 3 (STGD3) | A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. The disease is caused by variants affecting the gene represented in this entry. |