This website provides information on patients with mutations in the RAP1GDS1 gene, including clinical data, molecular data, management and research options.

Alfadhel syndrome caused by mutations in the RAP1GDS1 gene is a multisystem disorder characterized by global developmental delay (GDD) and regression, intellectual disability, speech delay, short stature, abnormality of movement, difficulty standing, delayed myelination, generalized hypotonia, joint laxity, sterotypy, and dysmorphic features, including high forehead, highly arched eyebrows, low-set ears, nasal flaring, and hypertelorism, but do not occur in all individuals with a mutation in the RAP1GDS1 gene.

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 RAP1GDS1 gene.

Majid Alfadhel, MD, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia, dralfadhelm@gmail.com

Ahmed Alfares, MD, Center for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, alfahmad@gmail.com

Muhamad Umair, PhD, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia, umairmu@ngha.med.sa