Human genes for spondyloepimetaphyseal dysplasia with joint laxity type 1
Spondyloepimetaphyseal dysplasia with joint laxity type 1 [DOID:0112198]
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 B3GALT6 on chromosome 1p36.33.
Synonyms: spondyloepimetaphyseal dysplasia with joint laxity type 1, DOID:0112198, SEMDJL1, spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, spondyloepimetaphyseal dysplasia with joint laxity type 1 with or without fractures ...