Disease ID | Source | Name | Description |
616212 | OMIM | Lissencephaly 6, with microcephaly (LIS6) | A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay. The disease is caused by variants affecting the gene represented in this entry. |