This website provides information on patients with mutations in the ZBTB20 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ZBTB20 gene is a multisystem disorder characterized by mild-to-moderate developmental delay/ intellectual disability, behavior abnormalities, hypotonia, muscle wasting, joint contracture, progressive ataxia, and distinctive facial features. Other less frequent complications include hearing loss or deafness, corpus callosal abnormalities detected by brain MRI, auricular calcification, hypothyroidism, recurrent otitis media, diabetes mellitus, cataracts, low serum testosterone levels.

Not all individuals with a mutation in the ZBTB20 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 ZBTB20 gene.

Toshiyuki Yamamoto, MD, PhD, Tokyo Women’s Medical University, Tokyo, Japan, yamamoto.toshiyuki@twmu.ac.jp