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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:0000028 | Cryptorchidism |
| HP:0000160 | Narrow mouth |
| HP:0000230 | Gingivitis |
| HP:0000256 | Macrocephaly |
| HP:0000286 | Epicanthus |
| HP:0000431 | Wide nasal bridge |
| HP:0000506 | Telecanthus |
| HP:0000653 | Sparse eyelashes |
| HP:0000938 | Osteopenia |
| HP:0000963 | Thin skin |
