| Disease ID | Source | Name | Description |
| 615763 | OMIM | Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) | A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa. The disease is caused by variants affecting the gene represented in this entry. |