This website provides information on patients with mutations in the HID1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variants in the HID1 gene is a multisystem disorder characterized by an early infantile onset phenotype encompassing encephalopathy, corpus callosum hypoplasia, hypopituitarism, epilepsy, visual impairment and severe developmental delay as the main clinical signs.

HID1 domain-containing protein 1 (HID1, OMIM*605752) is a protein involved in vesicle trafficking within the trans-Golgi network (TGN).

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 HID1 gene.

Axel Weber, MD, Marburg University, Marburg, Germany, axel.weber@uni-marburg.de