| Disease ID | Source | Name | Description |
| 213000 | OMIM | Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay (CHEGDD) | An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy. The disease is caused by variants affecting the gene represented in this entry. |