CECR2 and anencephaly: 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.