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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:0000494 | Downslanted palpebral fissures |
| HP:0000501 | Glaucoma |
| HP:0000541 | Retinal detachment |
| HP:0000545 | Myopia |
| HP:0000592 | Blue sclerae |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000787 | Nephrolithiasis |
| HP:0000974 | Hyperextensible skin |
| HP:0000978 | Bruising susceptibility |
| HP:0001075 | Atrophic scars |
