Features include always present findings: Brachydactyly, Waddling gait, Genu varum, and Platyspondyly; and very common findings: Excessive inward curve of the lower back (lumbar hyperlordosis). 43 total HPO annotations.

BGN encodes biglycan (368 aa). May be involved in collagen fiber assembly Highest expression in Artery Aorta (8,167 TPM) and Artery Coronary (4,160 TPM).

X-linked spondyloepimetaphyseal dysplasia is associated with mutations in the BGN gene on chromosome X.

BGN is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 26.1.

Genetic testing for BGN is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 1 very common feature, 1 common feature.