These include (with the mutated gene in parentheses): juvenile neuronal ceroid lipofuscinosis (CLN3) [48]; Scheie syndrome (IDUA) [49]; aspartylglucosaminuria (AGA) [49]; Fabry disease (GLA) [49,50]; cystinosis (CTNS) [51]. Here, CLN3 is linked to diffuse lymphatic malformation.