This website provides information on patients with variants in the LHX2 gene, including clinical data, molecular data, management and research options.

Heterozygous variants in the LHX2 gene are associated with a variable neurodevelopmental disorder characterized by developmental and/or behavioral abnormalities, autism spectrum disorder, intellectual disability, and microcephaly.

Not all individuals with a variant in the LHX2 gene have all of 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 LHX2 variants.

We invite clinicians who have identified a mutation in LHX2 in a patient to submit their data to the database.

Anne Gregor, PhD, Department of Human Genetics, Inselspital Bern, Bern, Switzerland, anne.gregor@unibe.ch

Christiane Zweier, MD, PhD, Department of Human Genetics, Inselspital Bern, Bern, Switzerland, christiane.zweier@insel.ch