Registry Working Party
List of diseases and genes
This list gives an overview on the diseases in the Registry and available genes for each disease.
We try to keep this list up to date with the discoveries of new phenotypes and genes. If an entry is lacking, or you have any comments or suggestions please send us an email at and state the maincategory, subcategory, PID-diagnosis, Gene-Name and whether it is a genetic diagnosis only, and provide a reference, if possible.
Last update: 2020-12-01