This website provides information on patients with mutations in the KIF16B gene, including clinical data, molecular data, management and research options.

The syndrome inherited in autosomal recessive fashion caused by mutations in the KIF16B gene characterized by facial dysmorphism, microcephaly, severe intellectual disability, and abnormal MRI findings. To date only 2 siblings have been associated with KIF16B-related pathogenesis.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KIF16B gene.

Majid Alfadhel, MD, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia, dralfadhelm@gmail.com

Ahmed Alfares, MD, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, alfahmad@gmail.com

Muhamad Umair, PhD, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia, umairmu@ngha.med.sa