This gene has recently been identified by homozygosity mapping using WES in a large consanguineous Pakistani family with multiple family members affected with microcephaly.33 Homozygous NEK9 variants were identified in family 39 who were known to be consanguineous and had 2 affected pregnancies with arthrogryposis and fetal akinesia sequence. This evidence concerns the gene NEK9 and Akinesia.