spondyloepiphyseal dysplasia tarda with intellectual disability (DOID:0112292)
Alliance: disease page
Alt IDs: OMIM:271620, MESH:C564796, ORDO:163665, UMLS_CUI:C1849053
Definition: A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability.