A patient who was homozygous for the c.398dupC; p.Leu134Thrfs*25 variant in EXOC3L2 had symptoms resembling those of Meckel-Gruber syndrome (MKS), including occipital encephalocele and early postnatal death, but lacked polydactyly and enlarged cystic kidneys, two other criteria for MKS. This evidence concerns the gene EXOC3L2 and Meckel syndrome, type 1.