Homozygous presence of the NM_001320412: c.530G > A, p.(Gly177Glu) variant in the FTCD gene leads to autosomal recessive glutamate formiminotransferase deficiency (OMIM: #229100) characterized by growth retardation, severe developmental delay and megaloblastic anemia [11]. This evidence concerns the gene FTCD and formiminoglutamic aciduria.