3mc Syndrome 1 (3MC1)

3mc Syndrome 1, also known as oculopalatoskeletal syndrome, is related to 3mc syndrome and 3mc syndrome 2. An important gene associated with 3mc Syndrome 1 is MASP1 (MBL Associated Serine Protease 1), and among its related pathways/superpathways are Innate Immune System and Complement cascade. Affiliated tissues include eye and skin, and related phenotypes are ptosis and intellectual disability, mild