TRAPPC6B

This website provides information on patients with a mutation in the TRAPPC6Bgene, including clinical data, molecular data, management and research options.

TRAPPC6B-related syndrome, caused by biallelic mutations in the TRAPPC6Bgene, is a neurodevelopmental disorder characterized by microcephaly, global developmental delay and intellectual disability, and early-onset epilepsy. Autistic features, hypotonia, and brain atrophy on neuroimaging may also be observed, but do not occur in all individuals with a pathogenic mutation in the TRAPPC6Bgene.

This website was created to share and collect information about clinical characteristic, management and research projects to gather more knowledge and provide better treatment of patients with a mutation in the TRAPPC6Bgene.

Professor Maha S. Zaki, MD, PhD, Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt, dr_mahazaki@yahoo.com
Mohamed G. Ayad, MD, MSc, Assistant Lecturer, Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt, drmohamedgmalayad@gmail.com