| Disease ID | Source | Name | Description |
| 617977 | OMIM | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (NEDSBAS) | An autosomal recessive disorder characterized by profound developmental delay, progressive spastic quadriplegia and contractures, early-onset refractory epilepsy in most patients, and brain malformations. Neuroimaging shows ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral gray matter. The disease may be caused by variants affecting the gene represented in this entry. |