Disease ID | Source | Name | Description |
616734 | OMIM | Skin creases, congenital symmetric circumferential, 2 (CSCSC2) | An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry. |