This website provides information on patients with mutations in the P4HTM gene, including clinical data, molecular data, management, and research options.
Biallelic pathogenic variants in P4HTM gene is the genetic cause of HIDEA syndrome, a multisystem disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities.
Not all individuals with a mutation in the P4HTM 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 P4HTM gene.
Fowzan Alkuraya, MD (Hons) ABP ABMG, King Faisal Specialist Hospital and Research Center, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org
Fadie D. Altuame, MBBS Intern, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, email@example.com
Elisa Rahikkala, MD, PhD, MRC Oulu and Department of Clinical Genetics, University of Oulo, firstname.lastname@example.org