An autosomal recessive type of GLD has previously been reported; Hennekam Lymphangiectasia-Lymphoedema syndrome (HS) (OMIM #235510 and OMIM #616006), caused by mutations in CCBE1 (refs 2, 3) and FAT4 (ref. 4) explaining <50% of HS cases. This evidence concerns the gene CCBE1 and Krabbe disease.