H1-4

This website provides information on patients with mutations in the H1-4gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the H1-4 gene is a multisystem disorder characterized by hypotonia; intellectual disability, autism spectrum disorder, anxiety, and other behavioural issues; skeletal; undescended testis, and thyroid dysfunction; congenital heart defects (most commonly atrial septal defect); and ectodermal issues (including sparse hair, thin nails, and abnormal dentition)

Not all individuals with a mutation in the H1-4 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 H1-4 gene.

Yong-hui Jiang, MD, PhD, Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA, yong-hui.jiang@yale.edu