In three independent studies, mutations in the human SLC10A7 gene were associated with a severe disease phenotype characterized by skeletal dysplasia with short stature, osteoporosis, amelogenesis imperfecta, skeletal deformations, facial abnormalities, visual and hearing impairment, and intellectual disability (Ashikov et al., 2018; Dubail et al., 2018; Laugel-Haushalter et al., 2019). The gene discussed is SLC10A7; the disease is skeletal dysplasia.