This website provides information on patients with mutations in the IREB2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the IREB2 gene is a multisystem disorder characterized by global developmental delay with neurodegeneration, dystonia, seizures, anemia associated with altered iron metabolism, and mitochondrial dysfunction.
Not all individuals with a mutation in the IREB2 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 IREB2 gene.
David Amor, MBBS, PhD, Murdoch Children’s Research Institute, Melbourne, Australia, firstname.lastname@example.org