Disease ID | Source | Name | Description |
615412 | OMIM | Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) | A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients. The disease is caused by variants affecting the gene represented in this entry. |