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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
No external resources available.
microcephaly and chorioretinopathy
MONDO:0000181
syndromic intellectual disability
MONDO:0000508
non-syndromic intellectual disability
MONDO:0000509
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MONDO:0007918
autosomal dominant primary microcephaly
MONDO:0007988
Prader-Willi syndrome
MONDO:0008300