spondyloepimetaphyseal dysplasia with joint laxity type 3 (DOID:0112200)
Alliance: disease page
Synonyms: SEMDJL3
Alt IDs: OMIM:618395
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.