This website provides information on patients with mutations in the QRICH1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the QRICH1 gene is a multisystem disorder characterized by expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behavior deficits as clinical hallmarks. In addition, one patient presented with nephroblastoma, rendering an involvement of QRICH1 in pediatric cancer possible. To date, too few patients (n < 10) have been described in the literature, so the phenotypic spectrum is not fully characterized.
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 QRICH1 gene.
Silke Redler, MD, Institute of Human Genetics, Düsseldorf, Germany, firstname.lastname@example.org