Human Disease Genes website series is an international library of websites for professional information. We focus on rare diseases, in particular on the phenotype associated with novel genes. Each website provides up to date clinical information about one specific gene or copy number variant and its clinical consequences. Thus, we aim to collect data of each patient that has been diagnosed after the first publication, but is not yet included in a follow-up paper.
More about our aims can be read here and more about our team can be found here