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

The syndrome caused by pathogenic variants in the HNRNPU gene is a multisystem disorder characterized by mild to severe developmental delay/intellectual disability, speech and language delay, motor delay, epilepsy, hypotonia, and distinctive facial features. Facial features are subtle and vary but can include widely spaced teeth, a thin upper lip, hypertelorism (increased space between the eyes), and prominent and/or arched eyebrows. Some individuals have growth delays and/or cardiac anomalies.

Not all individuals with a mutation in variants in HNRNPU 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 pathogenic variants in the HNRNPU gene.

Meena Balasubramanian, MD, PhD, University of Sheffield, Sheffield, UK, m.balasubramanian@sheffield.ac.uk
Maddie Gillentine, PhD, HNRNP Family Foundation, Seattle, WA, USA, maddie@hnrnp.org