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:0001071
intellectual disability
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
exact
SPAC29B12.02c