Disease ID | Source | Name | Description |
611603 | OMIM | Lissencephaly 3 (LIS3) | A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem. The disease is caused by variants affecting the gene represented in this entry. |