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

Mutations in the MFF gene cause encephalopathy due to defective mitochondrial and peroxisomal fission 2, an autosomal recessive disorder characterized by severe hypotonia, developmental delay, microcephaly, and signal abnormalities in the basal ganglia.

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

Fowzan S Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia / Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

Hanan E Shamseldin, DVM, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, hshanseldin93@kfshrc.edu.sa

Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, faltuame@alfaisal.edu