| Disease ID | Source | Name | Description |
| 615473 | OMIM | Developmental and epileptic encephalopathy 17 (DEE17) | A severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements. The disease is caused by variants affecting the gene represented in this entry. |
| 617493 | OMIM | Neurodevelopmental disorder with involuntary movements (NEDIM) | A neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum. The disease is caused by variants affecting the gene represented in this entry. |