Disease-causing mutations in UNC45A were first described by Esteve et al. in a case series of three patients from four families with a syndrome of MVID-like diarrheal disease, cholestasis, impaired hearing, and bone fragility which was termed osteo-oto-hepato-enteric (O2HE) syndrome (Esteve et al. 2018). The gene discussed is UNC45A; the disease is diarrheal disease.