LHX2-associated neurodevelopmental disorder is most often characterized by developmental delay and intellectual disability of variable severity. A few individuals without intellectual disability have also been described. Behavioral problems are commonly reported. Speech development is often more affected than motor development. Additionally, small head circumference and subtle abnormalities in MRI have been found in many individuals. Subtle facial dysmorphism are also commonly noted. Involvement of other organ systems, such as cardiac or skeletal anomalies have only been described infrequently.
A more detailed description of the clinical spectrum can be found in the section Professionals – Clinical characteristics.
LHX2