New Documented SETBP1-HD and SETBP1-Related Disorders Dashboard
SETBP1 haploinsufficiency disorder (SETBP1-HD) is an ultra rare, genetic neurodevelopmental disorder. SETBP1-HD is caused by a loss-of-function change on one copy of the two copies of the SETBP1 gene. There are also some changes on one copy of the SETBP1 gene where we do not know how the SETBP1 function is impacted. For changes where […]