This website provides information on patients with mutations in the ZBTB18 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ZBTB18 gene is a multisystem disorder characterized by:
• Delayed psychomotor development/intellectual disability
• Muscle weakness (hypotonia)
• Abnormalities of the corpus callosum
• Microcephaly (small head circumference)
• Short stature
Not all individuals with a mutation in the ZBTB18 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 ZBTB18 gene.
S.A. de Munnik, MD, PhD, Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands, Sonja.deMunnik@radboudumc.nl
V. van der Schoot, MD, Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands, email@example.com