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

The syndrome caused by mutations in the CTCF gene is a multisystem neurodevelopmental disorder characterized by developmental delay and/or intellectual disability, microcephaly, feeding difficulties, hypotonia, distinct craniofacial features, behavioral differences (including features of autism spectrum disorder) and additional findings affecting the heart, skeleton, and genitourinary system.

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

Emma Price, PhD, National Institutes of Health, Bethesda, MD, USA, emma.price2@nih.gov