Disease

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.

Synonyms

SEMDJL1
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Cross References

MIM:271640

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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