UNC45A and cholestasis: Bi-allelic compound heterozygous mutations in the UNC45A gene were reported in 4 patients of 3 families who clinically presented with congenital (secretory) diarrhea, cholestasis, sensorineural hearing loss, and/ or bone fragility, referred to as osteo-oto-hepato-enteric (O2HE) syndrome (Online Mendelian Inheritance in Men #619377).5