spondyloepimetaphyseal dysplasia with joint laxity type 1

Term ID

DOID:0112198

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/10482874/

References

• OMIM:271640

Ontology

Human Disease   ( DOID:0112198 )