Biallelic MYO5B mutations are thus identified in patients with a spectrum of clinical manifestations, ranging from intestinal disease (MYO5B-MVID) to intestinal disease combined with cholestatic liver disease in the same patients (MYO5B-MIXED), where MVID and the liver disease can be of equal or unequal medical concern, to predominant cholestatic liver disease, clinically indistinguishable from low-GGT PFIC (MYO5B-PFIC). This evidence concerns the gene MYO5B and Cholestatic liver disease.