spondyloepimetaphyseal dysplasia with joint laxity type 1 (DOID:0112198)
Alliance: disease page
Synonyms: SEMDJL1; spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Alt IDs: OMIM:271640
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.