SMARCAL1 and spondyloepiphyseal dysplasia: For example, following the array study, case 012 was diagnosed with Schimke immune-osseous dysplasia, an autosomal-recessive pleiotropic disorder caused by loss of function mutations in SMARCAL1 leading to spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency [20,21].