NBAS and liver disorder: Although some degree of liver disease has been associated with most NBAS variants, the mutations associated with severe liver phenotype were either loss-of-function or missense mutations predominantly located in the N-terminal and in the middle part of the NBAS gene (c.409C>T identified in 5 patients: c.680A>C;1749G>A, c.809G>C;2926del, c.1018G>C;2674G>T, c.2819A>C, and c.2819A>C) (15, 18, 27–31).