We present 3 patients, of whom 2 are siblings, with <i>MYO5B</i> variants and different clinical manifestations, ranging from isolated intestinal disease to intestinal disease combined with cholestatic liver disease, predominant cholestatic liver disease clinically similar to low-gamma-glutamyl transferase PFIC, seizures, and fractures. The gene discussed is MYO5B; the disease is Cholestatic liver disease.