| Disease ID | Source | Name | Description |
| 614557 | OMIM | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2) | A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine. The disease is caused by variants affecting the gene represented in this entry. |