This website provides information on patients with mutations in the UFC1 gene, including clinical data, molecular data, management, and research options.

Biallelic pathogenic variants in UFC1 gene are the genetic cause of autosomal recessive neurodevelopmental disorder with spasticity and poor growth (NEDSG).

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 UFC1 gene.

Dr. Fowzan Alkuraya, MD (Hons) ABP ABMG, King Faisal Specialist Hospital and Research Center, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

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