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SETD2-neurodevelopmental disorder with or without overgrowth/macrocephaly, also called Luscan Lumish syndrome, is a condition characterized by mild to severe intellectual disability, behavioural abnormalities, such as autism spectrum disorder, with or without overgrowth (larger than expected height and weight) and macrocephaly (larger than expected head circumference).

SETD2-neurodevelopmental disorder with multiple congenital anomalies, also called Rabin-Pappas syndrome (RAPAS) has been associated with profound intellectual disability, microcephaly (smaller than expected head circumference), failure to thrive (smaller than expected height and weight), and multiple congenital anomalies (a medical condition present from birth than affects the function or structure of a body part). The most common variant associated with RAPAS is c.5218C>T p.(Arg1740Trp).

SETD2-NDD is rare and has been reported in the medical literature in less than 35 individuals worldwide. SETD2-NDD is inherited in an autosomal dominant pattern, which means that a mutation in one of the two copies of the gene is enough to present with the condition. It usually results from a de novomutation, which means a new genetic change that was not inherited from either parent. Inheritance from a parent who is mosaic for the variant has been described. Mosaicism happens when there are multiple cell lines in an individual, so the mutation is present in only some cells of the body.