| Disease ID | Source | Name | Description |
| 618343 | OMIM | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) | An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur. The disease is caused by variants affecting the gene represented in this entry. |
| 130050 | OMIM | Ehlers-Danlos syndrome, vascular type (EDSVASC) | A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. The disease is caused by variants affecting the gene represented in this entry. |