Disease ID | Source | Name | Description |
617402 | OMIM | Cutis laxa, autosomal recessive, 2C (ARCL2C) | A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement. The disease is caused by variants affecting the gene represented in this entry. |