| Disease ID | Source | Name | Description |
| 616531 | OMIM | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA) | A form of polymicrogyria, 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. PMGYCHA patients manifest perisylvian polymicrogyria, cerebellar hypoplasia or dysplasia, and variable contractures of the limbs or fingers. The disease is caused by variants affecting the gene represented in this entry. |