This website provides information on patients with mutations in the SUPT16H gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SUPT16H gene is a multisystem neurodevelopmental disorder characterized by global developmental delay, intellectual disability, autistic features, hypotonia, and variable structural brain abnormalities, often accompanied by craniofacial dysmorphisms, gastrointestinal or genitourinary anomalies, and occasional endocrine, cardiac, or sensory involvement.

Not all individuals with a mutation in the SUPT16H 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 SUPT16H gene.

Emanuela Argilli, PhD, UCSF, San Francisco, CA, USA, Emanuela.Argilli@ucsf.edu