This website provides information on patients with mutations in the EMC10 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the EMC10 gene is a multisystem disorder characterized by moderate to severe developmental delay and borderline too severe intellectual disability. Behavioral problems, seizures, poor weight gain, growth deficiency, microcephaly, kidney and urinary tract abnormalities (nephrocalcinosis, renal cysts, and hydronephrosis), and upper limb anomalies (cubitus valgus, arachnodactyly, and bilateral fifth digit clinodactyly) have been reported in some individuals, but do not occur in all individuals with a mutation in the EMC10 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 EMC10 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