autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type (DOID:0112291)
Alliance: disease page
Alt IDs: OMIM:609223
Definition: A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities.