| Disease ID | Source | Name | Description |
| 613180 | OMIM | Cortical dysplasia, complex, with other brain malformations 8 (CDCBM8) | A disease characterized by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. The disease is caused by variants affecting the gene represented in this entry. |