SETBP1-related disorder, SETBP1-related intellectual disability, SETBP1 related developmental delay, Autosomal dominant intellectual disability 29
Type of disease: Rare Condition or Disease
SETBP1 disorder is a neurodevelopmental disorder caused by a loss-of-function mutation in one of the two copies of the SETBP1 gene. Most cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual’s parent or in early embryonic development. These cases occur in people with no history of the disorder in their family. The condition causes speech and language problems, intellectual disability, and distinctive facial features. Speech development may be limited to a few words or no speech. Affected individuals often communicate using gestures or by mimicking the expressions of others.