| Disease ID | Source | Name | Description |
| 618494 | OMIM | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) | An autosomal dominant neurodevelopmental syndrome characterized by severe global developmental delay, impaired intellectual development, poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital malformations. Most patients also have seizures and structural brain abnormalities. The disease is caused by variants affecting the gene represented in this entry. |
| 125370 | OMIM | Dentatorubral-pallidoluysian atrophy (DRPLA) | Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth. The disease is caused by variants affecting the gene represented in this entry. |