This website provides information on patients with mutations in the UNC80 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the UNC80 gene is a multisystem disorder characterized by profound global developmental delay, truncal hypotonia, peripheral spasticity, failure to thrive, and eye movement disorders. These features are consistent with infantile static encephalopathy with absence of seizures.
Not all individuals with a mutation in the UNC80 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 UNC80 gene.
Dr. Fowzan Alkuraya, 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, firstname.lastname@example.org
Dr. Hanan E Shamseldin, DVM, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, email@example.com
Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org