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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:0003196 | Short nose |
| HP:0003198 | Myopathy |
| HP:0003199 | Decreased muscle mass |
| HP:0003319 | Abnormality of the cervical spine |
| HP:0003414 | Atlantoaxial dislocation |
| HP:0004794 | Malrotation of small bowel |
| HP:0005272 | Prominent nasolabial fold |
| HP:0006184 | Decreased palmar creases |
| HP:0007906 | Ocular hypertension |
| HP:0012534 | Dysesthesia |
