spondyloepimetaphyseal dysplasia with joint laxity type 3

Term ID

DOID:0112200

Synonyms

• SEMDJL3

Definition

A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. https://pubmed.ncbi.nlm.nih.gov/26669664/

References

• OMIM:618395

Ontology

Human Disease   ( DOID:0112200 )