This website provides information on patients with mutations in the ANKRD11 gene, including clinical data, molecular data, management and research options. KBG syndrome caused by mutations in the ANKRD11 gene is a multisystem disorder characterized by variable degree of developmental delay/intellectual disability, short stature, behavioural abnormalities (such as ADHD, autism), macrodontia, epilepsy, skeletal abnormalities, hearing loss and a characteristic pattern of facial features. Not all individuals with a mutation in the ANKRD11 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 ANKRD11 gene.
Dr. C.W. Ockeloen, Clinical Geneticist, Radboud University Medical Center, Nijmegen, The Netherlands, Charlotte.Ockeloen@radboudumc.nl
Dr. R. Pfundt, Laboratory Specialist Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, Rolph.Pfundt@radboudumc.nl
Dr. Karen Low, University Hospitals Bristol NHS Foundation Trust, Bristol, UK, email@example.com
Gholson Lyon, MD, PhD, New York Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA, firstname.lastname@example.org