PI4KA and arthrogryposis: (10) reported three affected fetuses, conceived by unrelated parents of European descent, with multiple congenital abnormalities, including anomalies perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis, and identified compound heterozygous mutations p. Arg796Ter and p.Asp1854Asn of the PI4KA gene from the father and the mother in aborted fetal samples, respectively.