SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

Definition

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.

Also known as SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth — per MONDO