The diagnosis of SIOD is made on clinical findings. The most definitive diagnostic findings are skeletal dysplasia (spondyloepiphyseal dysplasia), renal dysfunction (urinary protein loss), T lymphocyte deficiency, characteristic facial features, and hyperpigmented macules. DNA testing for mutations in SMARCAL1 is available on a clinical basis. 
How to diagnose Schimke immunoosseous dysplasia ?