Evaluation of affected members by a board-certified clinical geneticist included obtaining medical and family histories, clinical examination, neuroimaging and clinical laboratory investigations. After obtaining a written informed consent for enrollment in an IRB-approved project from the Research Advisory Council (RAC) of the King Faisal Specialist Hospital and Research Centre (KFSHRC RAC# 2121053), venous blood was collected in EDTA and sodium heparin tubes for DNA extraction and establishment of lymphoblastoid cell lines (patients 19DG0509 and 19DG0510), respectively. All studies abide by the Declaration of Helsinki principles. The authors affirm that the parents of the human research participants provided informed consent for publication of the images of the minors in Fig. 6.
