There is one report that suggests CCBE1 may also be a cause of lymphedema-cholestasis syndrome (OMIM#214900), although it isn’t clear if this was the coincidental finding of Hennekam along with cholestasis or whether CCBE1 mutation was the underlying cause of the cholestasis as well, perhaps secondary to a lymphatic effect [9]. This evidence concerns the gene CCBE1 and Cholestasis-lymphedema syndrome.