This list gives an overview on the diseases in the Registry and available genes for each disease. Please, have also a look in the menu on the left at ESID Diagnosis criteria.
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 esid-registry@uniklinik-freiburg.de and state the
Maincategory,
Subcategory,
IEI (PID) -diagnosis,
Gene-Name (optionaly type of mutation GOF/LOF) and
whether it is a genetic diagnosis only.
Please provide a reference, if possible.
