| Disease ID | Source | Name | Description |
| 219200 | OMIM | Cutis laxa, autosomal recessive, 2A (ARCL2A) | A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. The disease is caused by variants affecting the gene represented in this entry. |
| 278250 | OMIM | Wrinkly skin syndrome (WSS) | A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. The disease is caused by variants affecting the gene represented in this entry. |