What is LHX2-associated neurodevelopmental disorder?
LHX2-associated neurodevelopmental disorder is caused by changes in the LHX2 gene.
Changes in LHX2 have been linked to developmental delay/behavioral problems/intellectual disability. Other characteristics observed include subtle facial dysmorphism and small head circumference, but not all individuals with a change in LHX2 have these features.
How many people are affected by LHX2-associated neurodevelopmental disorder?
This disorder is very rare. So far, only 19 patients with LHX2 variants have been reported in the literature. We are still learning more about this condition and likely more cases will be recognized in the future.