This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
SETBP1 disorder is a neurodevelopmental disorder characterized by intellectual disability, mild to moderate developmental delay, autism or autistic traits, and attention deficit. Speech may be absent or delayed. Physical features may include a long face and elongated head (dolichocephaly), eyes that point downwards (downslanting palpebral fissures), and a thin upper lip. SETBP1 disorder is caused by a loss-of-function mutation in one of the two copies of the SETBP1 gene. The SETBP1 gene is located on the long (q) arm of chromosome 18. Because the features of SETBP1 disorder are common, a genetic test (such as whole exome or genome sequencing) may be needed for diagnosis.
A different type of mutation in the SETBP1 gene causes a different and more severe condition called Schinzel Giedion syndrome.
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