| Disease ID | Source | Name | Description |
| 617864 | OMIM | Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) | An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent from infancy or early childhood, mild to profound intellectual disability, hypertonia early in life, which progresses to spasticity and impaired gait later, and behavioral abnormalities. Some patients may develop seizures of variable severity early in life. The disease is caused by variants affecting the gene represented in this entry. |