Notably, several genes were represented in different phenotypic groups, such as the GALT gene (galactosemia) reported as presenting with acute liver failure in 4 families, cholestasis (1 family) and organomegaly (1 family), NPC1 (Niemann-Pick C1) reported with organomegaly (5 families) and cholestasis (2 families), SMPD1 (Niemann-Pick A/B) reported with organomegaly (3 families) and cholestasis (1 family) and MPV17 (MTDPS6) reported with a main presentation of cholestasis (2 families) and liver cell failure (1 family). The gene discussed is MPV17; the disease is cholestasis.