Only few patients with variants in LHX2 have been reported in the medical literature. Therefore, the full clinical and mutational spectrum associated with LHX2 variants is still unknown, hampering optimal management of patients.
Our research therefore aims to:
• Identify additional individuals with LHX2 variants to delineate the clinical and mutational spectrum of the disorder
• Gain insight into the pathomechanisms related to LHX2-associated NDD
Clinicians can submit clinical data directly into this website’s database.
Instructions for the clinician involved:
Please request written consent for the use and storage of medical information with or without photographs.
Any additional questions or enquiries should be directed to anne.gregor@unibe.ch
LHX2