progressive intrahepatic cholestasis, with early onset of loose, foul-smelling stools, jaundice, hepatosplenomegaly, dwarfism, and occasionally death; due to an error in conjugated bile salt metabolism; autosomal recessive inheritance, caused by mutation in the familial intrahepatic cholestasis 1 gene (FIC1) on chromosome 18q. [Byler, an Amish kindred]
