This website provides information on patients with mutations in the HIST1H1E gene, including clinical data, molecular data, management and research options.
The syndrome caused by variants in the HIST1H1E gene (also known as gene mutations) is known as Rahman syndrome and is a multisystem disorder characterized by an intellectual disability (most frequently in the moderate range) and an increased head circumference (known as macrocephaly). Children and adults often have a shared, recognisable facial appearance.
Not all individuals with a HIST1H1E gene variant have these clinical 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 variants in the HIST1H1E gene.
Katrina Tatton-Brown, BMBCh, MD, St. George's University of London, UK, firstname.lastname@example.org