| Disease ID | Source | Name | Description |
| 615938 | OMIM | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) | A syndrome characterized by megalencephaly, ventriculomegaly that may lead to hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome. The disease is caused by variants affecting the gene represented in this entry. |