Rafiq Syndrome (RAFQS)

Rafiq Syndrome, also known as mental retardation, autosomal recessive 15, is related to congenital disorder of glycosylation, type in and hypotonia. An important gene associated with Rafiq Syndrome is MAN1B1 (Mannosidase Alpha Class 1B Member 1), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Glycosylation and related congenital defects. Affiliated tissues include liver and skin, and related phenotypes are intellectual disability and global developmental delay