| Disease ID | Source | Name | Description |
| 618741 | OMIM | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) | An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth, early-onset seizures, lack of psychomotor development, spastic quadriparesis, progressive cortical and cerebellar atrophy, and dysmorphic features, including microcephaly. Death in childhood may occur. The disease is caused by variants affecting the gene represented in this entry. |