DISEASES

Disease-gene associations mined from literature

Human genes for spondyloepimetaphyseal dysplasia with joint laxity type 3

Spondyloepimetaphyseal dysplasia with joint laxity type 3 [DOID:0112200]

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 EXOC6B on chromosome 2p13.2.

Synonyms:  spondyloepimetaphyseal dysplasia with joint laxity type 3,  DOID:0112200,  SEMDJL3