| Disease ID | Source | Name | Description |
| 614438 | OMIM | Cutis laxa, autosomal recessive, 3B (ARCL3B) | A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. The disease is caused by variants affecting the gene represented in this entry. |
| 612940 | OMIM | Cutis laxa, autosomal recessive, 2B (ARCL2B) | 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. Patients do not manifest metabolic abnormalities. The disease is caused by variants affecting the gene represented in this entry. |