This website provides information on patients with mutations in the ABCA2 gene, including clinical data, molecular data, management, and research options.
Biallelic pathogenic variants in ABCA2 gene are the genetic cause of autosomal recessive Intellectual Developmental Disorder with Poor Growth and with or without Seizures or Ataxia (IDPOGSA).
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 ABCA2 gene.
Dr. Fowzan Alkuraya, MD (Hons) ABP ABMG, King Faisal Specialist Hospital and Research Center, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, email@example.com
Fadie D. Altuame, MBBS Intern, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org