Nicolaides-Baraitser Syndrome

Nicolaides-Baraitser Syndrome

Nicolaides-Baraitser syndrome is a rare genetic disorder characterised by developmental delay, intellectual disability, and distinct facial features. Additional symptoms include sparse hair, small stature, and seizures. The syndrome is caused by mutations in the SMARCA2 gene. Diagnosis of Nicolaides-Baraitser syndrome is confirmed through genetic testing and clinical evaluation.