This website provides information on patients with mutations in the GATAD2A gene, including clinical data, molecular data, management and research options.

The disorder caused by mutations in the GATAD2A gene, also is also known as GATAD2A-related Neurodevelopmental Disorder or GARND, is an extremely rare multisystem disorder characterized by the variability of its presentation across the few identified patients so far. Core features in affected individuals include global developmental delay, structural brain defects, and craniofacial dysmorphology.

We have previously identified five individuals that possessed de novo autosomal dominant variants in GATAD2A. These GATAD2A variants are predicted to affect protein dosage and/or interactions with other proteins.

Not all individuals with a mutation in the GATAD2A gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the GATAD2A gene.

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