This website provides information on patients with mutations in the TRAPPC9 gene, including clinical data, molecular data, management, and research options.
TRAPPC9 is associated with autosomal recessive Intellectual Disability (ID) (MRT13, OMIM#613192). TRAPPC9 involves 23 exons and encodes the NIK-and-IKK2-binding protein (NIBP). In addition to ID and developmental delay, additional reported features were as follow: microcephaly, dysmorphic facial features, obesity, autism spectrum disorder (ASD), stereotypical behaviors (hand-flapping behavior), attention-deficit/ hyperactivity disorder (ADHD), and brain imaging abnormalities.
This website was created to share and collect information about the clinical, management and research projects to gather more knowledge to enable the better treatment of patients with mutations in the TRAPPC9 gene.
Unsel-Bolat Gul, MD, PhD, Department of Child and Adolescent Psychiatry, Faculty of Medicine, Balıkesir University, Türkiye, gul.unsel.bolat@gmail.com
Bolat Hilmi, MD, PhD, Department of Medical Genetics, Faculty of Medicine, Balıkesir University, Türkiye, hilmi.bolat@balikesir.edu.tr