This website provides information on patients with mutations in the GLRA2 gene, including clinical data, molecular data, management, and research options.
The syndrome caused by mutations in the GLRA2 gene is a neurodevelopmental disorder characterized by developmental delay, learning difficulties or intellectual disability, seizures, hypotonia and incoordination. Patients may have behavioral problems, including autism spectrum disorder, inattention and hyperactivity. Ophthalmologic abnormalities, such as nystagmus, strabismus, myopia and astigmatism are common. Less common features may include microcephaly and sleep disturbance. Not all individuals with a mutation in the GLRA2 gene have these features.
This website was created to share and collect information about clinical features, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the GLRA2 gene.
Ronit Marom, MD, PhD, Baylor College of Medicine, Houston, TX, USA, email@example.com
Michael F. Wangler, MD, Baylor College of Medicine, Houston, TX, USA, firstname.lastname@example.org