In particular, heterozygous loss-of-function mutations [67,87,88] in CELSR1 are correlated with Lymphatic malformation 9 (OMIM: 619319), while homozygous mutations [89] in FAT4 are correlated with Hennekam lymphangiectasia-lymphedema syndrome 2 (OMIM: 616006). This evidence concerns the gene CELSR1 and Hennekam lymphangiectasia-lymphedema syndrome 2.