This website provides information on patients with mutations in the HIVEP2 gene, including clinical data, molecular data, management and research options.

HIVEP2 disorder is characterized by global developmental delay/intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, hypotonia, motor impairment, and minor facial dysmorphisms. Not all individuals with a mutation in the HIVEP2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the HIVEP2 gene.

Siddharth Srivastava, MD, Boston Children’s Hospital, Boston, MA, USA, siddharth.srivastava@childrens.harvard.edu

Sakkubai Naidu, MD, Kennedy Krieger Institute, Baltimore, MD, USA, naidu@kennedykrieger.org