| Metadata | |
|---|---|
| ID | DOID:0112198 |
| Name | spondyloepimetaphyseal dysplasia with joint laxity type 1 |
| 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. https://pubmed.ncbi.nlm.nih.gov/10482874/ |
| Xrefs | |
| Synonyms |
SEMDJL1 [EXACT] spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [EXACT] |
| Parent Relationships |