Fatal familial intrahepatic cholestasis (Byler disease).
D002779:Cholestasis / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D006932:Hyperbilirubinemia / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D010375:Pedigree; D013577:Syndrome