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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:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000410 | Mixed hearing impairment |
| HP:0000463 | Anteverted nares |
| HP:0000473 | Torticollis |
| HP:0000482 | Microcornea |
