A male patient (D63) carrying the CECR2 p.Gly701Arg (c.2101G>A) variant also presented with anencephaly at 25 weeks of gestation, and was affected by multiple abnormalities, including meningoencephalocele, atelectasis, visceral congestion, cheilopalatognathus, symphysodactylia, equinovarus and absence of the eyes and nose. This evidence concerns the gene CECR2 and meningoencephalocele.