| Disease ID | Source | Name | Description |
| 617709 | OMIM | Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) | An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, seizures apparent in infancy, impaired speech, and aggressive behavior. Additional features include microcephaly, ataxia, and muscle weakness. The disease is caused by variants affecting the gene represented in this entry. |