| Disease ID | Source | Name | Description |
| 618325 | OMIM | Lissencephaly 9 with complex brainstem malformation (LIS9) | 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. LIS9 is an autosomal dominant form clinically characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements. Brain imaging shows malformation of the brainstem, in addition to pachygyria and lissencephaly. The disease is caused by variants affecting the gene represented in this entry. |