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Ehlers-Danlos syndrome spondylodysplastic type 1
Summary
- Definition
- An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080738
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000973 | Cutis laxa |
| HP:0000974 | Hyperextensible skin |
| HP:0000987 | Atypical scarring of skin |
| HP:0001000 | Abnormality of skin pigmentation |
| HP:0001075 | Atrophic scars |
| HP:0001166 | Arachnodactyly |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001371 | Flexion contracture |
| HP:0001382 | Joint hypermobility |
