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spondyloepimetaphyseal dysplasia with joint laxity type 1
Summary
- Synonym
-
- SEMDJL1
- spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
- Definition
- A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33.
- Super Class
- autosomal recessive disease spondyloepimetaphyseal dysplasia with joint laxity
External Links
- Disease Ontology
- DOID:0112198
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96L58 | Beta-1,3-galactosyltransferase 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000272 | Malar flattening |
| HP:0000300 | Oval face |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000470 | Short neck |
| HP:0000520 | Proptosis |
| HP:0000545 | Myopia |
