has material basis in germline mutation in SETD2 intellectual disability Mendelian neurodevelopmental disorder SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth https://github.com/monarch-initiative/mondo/issues/6599 SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features. MONDO:0800477