Single articles describe various symptoms that occur in patients with NKX2-1 gene mutation: erectile dysfunction (Balicza et al. 2018); immunodeficiency (Villafuerte et al. 2018); ligamentous laxity (Villafuerte et al. 2018; Peall et al. 2014; Parnes et al. 2019); pes cavus (Costa et al. 2005; Peall et al. 2014); genitourinary abnormalities (Ferrara et al. 2008; Salvatore et al. 2010); congenital heart defect (Thorwarth et al. 2014); or hypodontia (Villafuerte et al. 2018). The gene discussed is NKX2-1; the disease is immunodeficiency disease.