| Disease ID | Source | Name | Description |
| 615282 | OMIM | Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) | A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. The disease is caused by variants affecting the gene represented in this entry. |