| Disease ID | Source | Name | Description |
| 618572 | OMIM | Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (NEDCHS) | An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia. The disease is caused by variants affecting the gene represented in this entry. |