Term Name: | autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0112291] ( DOID:0112291 ) |