| Disease ID | Source | Name | Description |
| 618590 | OMIM | Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) | An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry. |