This website provides information on patients with mutations in the ANKRD17 gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variants in the ANKRD17 gene is characterized by varying levels of intellectual disability, speech delay and shared facial features. Affected individuals may also have epilepsy, recurrent bacterial infections, growth delays, feeding difficulties, neuroimaging abnormalities, gait disturbances, minor ophthalmological abnormalities and autistic features.

Not all individuals with a mutation in the ANKRD17 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 ANKRD17 gene.

Maya Chopra, MBBS FRACP, Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Boston, USA, Maya.Chopra@childrens.harvard.edu

Chris Gordon, PhD, Imagine Institute of Genetic Diseases, Paris, France, chris.gordon@inserm.fr