| Disease ID | Source | Name | Description |
| 615539 | OMIM | Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) | A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. The disease is caused by variants affecting the gene represented in this entry. |