This website provides information on patients with mutations in the KIF4A gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the KIF4A gene is a multisystem disorder characterized by developmental delay /intellectual disability with and without epilepsy. Hydrocephalus and various other brain anomalies. Other congenital anomalies including anomalies of the kidney and urinary tract.

Not all individuals with a mutation in the KIF4A 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 KIF4A gene.

Isabel Filges, Prof, MD, PhD, Medical Genetics, Institute of Medical Genetics and Pathology, Department Theragnostics, Department Clinical Research, University Hospital of Basel and University of Basel, Basel, Switzerland, Isabel.Filges@usb.ch