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.

Also known as: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

0 clinical trials for this condition and its sub-types, 0 tagged with SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth itself.