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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:0011800 | Midface retrusion |
| HP:0001249 | Intellectual disability |
| HP:0002059 | Cerebral atrophy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001653 | Mitral regurgitation |
| HP:0000248 | Brachycephaly |
| HP:0000678 | Dental crowding |
| HP:0004474 | Persistent open anterior fontanelle |
| HP:0001181 | Adducted thumb |
| HP:0002007 | Frontal bossing |
