preferred_name: immunodeficiency 49
preferred_name_lc: immunodeficiency 49
label: SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES
label_lc: severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities