Almost 25% of patient's diseases are influenced by biallelic mutations in CCBE1 (Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1; MIM: 235510)) and FAT4 (Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2; MIM: 616006)) while CCBE 1 gene mutation [7]. The gene discussed is CCBE1; the disease is Hennekam lymphangiectasia-lymphedema syndrome 2.