GATAD2B

This website provides information on patients with mutations in the GATAD2Bgene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the GATAD2B gene, also known as GATAD2B-associated Neurodevelopmental Disorder or GAND, is a multisystem disorder characterized by infantile hypotonia, subjective feeding issues, minor heart defects, strabismus, motor delays, intellectual disability, apraxia of speech, focal or primary generalized epilepsy and macrocephaly associated with a large broad forehead.

Not all individuals with a pathogenic variant in the GATAD2Bgene have these features.

More patient data is needed to examine the phenotype of GAND in more detail and to identify the consequences of these GATAD2Bvariants more accurately.

This website was created to share and collect information about clinical issues, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the GATAD2Bgene.

We invite groups that have identified GATAD2Band GATAD2Avariants to contact us directly (tyler.pierson@cshs.org) and/or submit their data to the database.

Tyler Mark Pierson, MD, PHD, Cedars-Sinai Medical Center, Los Angeles, California, United States, tyler.pierson@cshs.org