How is Schimke immunoosseous dysplasia diagnosed? 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 ?
<s>[INST] Answer the question truthfully, you are a medical professional. This is the question: How to diagnose Schimke immunoosseous dysplasia ? [/INST] \n How is Schimke immunoosseous dysplasia diagnosed? 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.</s>