For example, the IUIS disease “β actin deficiency” (gene ACTB) corresponds to MIM phenotypes “Baraitser-Winter syndrome 1” (243310) and “Dystonia, juvenile-onset” (607371), or “Adenosine deaminase (ADA) deficiency” (gene ADA) in the IUIS Report is related to “Omenn Syndrome” (603554) and “Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-negative, NK Cell-negative, Due To Adenosine Deaminase Deficiency” (102700). The gene discussed is ACTB; the disease is Baraitser-Winter syndrome 1.