autosomal dominant disease SETBP1-related neurodevelopmental disorder SETBP1-related neurodevelopemental disorder caused by missense variant of unknown functional effect https://github.com/monarch-initiative/mondo/issues/10602 SETBP1-related disorders A neurodevelopmental disorder caused by a pathogenic missense variant of unknown functional effect that are not within or adjacent to the mutational hot spot in the SETBP1 gene. It is characterized by intellectual disability or developmental delay, speech and language delay, hypotonia and sleep issues, with variable seizures, attention-deficit/hyperactivity disorder and autistic traits, and a greater risk of orthopedic, gastrointestinal and heart issues than SETBP1 haploinsufficiency disorder. Inheritance is autosomal dominant and usually de novo. SETBP1-related disorders, not SGS or SETBP1-haploinsufficiency disorder MONDO:1060289 SETBP1-RD In PMID:34807554, "SETBP1-related disorders" is specifically referring to phenotypes that are not consistent w/SGS or SETBP1 haploinsufficiency disorder caused by SETBP1 pathogenic variants that do not result in loss of function and are not within or near the SGS mutational hot spot. However, "SETBP1-related disorders" has also been used to refer to all phenotypes associated w/SETBP1 pathogenic variants.