| Disease ID | Source | Name | Description |
| 225400 | OMIM | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) | A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe. The disease is caused by variants affecting the gene represented in this entry. |