Several reports indicate that identical mutations of the CTSC gene can give rise to multiple different phenotypes: the c.1040A>G p.Tyr347Cys missense mutation can lead either PLS or AP1 (Toomes et al. 1999; Hart et al. 2000c; Hewitt et al. 2004a,b) and the c.145C>T p.Gln49X nonsense mutation results either in HMS or PLS (Selvaraju et al. 2003; Rai et al. 2010). This evidence concerns the gene CTSC and Haim-Munk syndrome.