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Ehlers-Danlos syndrome spondylodysplastic type 2
Summary
- Synonym
-
- EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
- Ehlers-Danlos syndrome progeroid type
- Definition
- An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0050802
- UMLS
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96L58 | Beta-1,3-galactosyltransferase 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002650 | Scoliosis |
| HP:0002651 | Spondyloepimetaphyseal dysplasia |
| HP:0002751 | Kyphoscoliosis |
| HP:0002757 | Recurrent fractures |
| HP:0002779 | Tracheomalacia |
| HP:0002828 | Multiple joint contractures |
| HP:0002974 | Radioulnar synostosis |
| HP:0003016 | Metaphyseal widening |
| HP:0003196 | Short nose |
| HP:0003300 | Ovoid vertebral bodies |
