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Ehlers-Danlos syndrome musculocontractural type 2
Summary
- Definition
- An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080737
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001933 | Subcutaneous hemorrhage |
| HP:0002019 | Constipation |
| HP:0002107 | Pneumothorax |
| HP:0002119 | Ventriculomegaly |
| HP:0002194 | Delayed gross motor development |
| HP:0002650 | Scoliosis |
| HP:0002751 | Kyphoscoliosis |
| HP:0002761 | Generalized joint hypermobility |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0002947 | Cervical kyphosis |
