This website provides information on patients with mutations in the KIF26A gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the KIF26A gene is autosomal recessive disorder characterized mainly by neurological and gastrointestinal (GI) involvement. Neurological features include variable degrees of developmental delay and brain malformations, like ventricular dilatation, hydrocephalus, and polymicrogyria. GI involvement usually manifests early in life with intestinal dysmotility and abdominal distention.

Not all individuals with a mutation in the KIF26A gene have these features.

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 KIF26A gene.

Mohammed Almannai, MD, Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia, almannaimo@mngha.med.sa

Fowzan Alkuraya, MD, Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa