Mutations obstructing ATP's emplacement in KIF2A nucleotide-binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability.

The type of KIF2A variants that sterically hinder ATP emplacing in KIF2A NBD pocket may be associated with the intellectual disability phenotype; however, further studies are needed. Findings in this case also suggest a rare parental germline mosaicism of KIF2A G440R.