The catalog and the resulting database intends to include the Mendelian disorders that have been reported among Jews and are either
relatively frequent, or in which a mutation has been reported with an increased frequency. The catalog and the resulting database
includes a very short list of references and mainly refers to McKusick’s Mendelian Inheritance in Man.
In order to keep the catalog and the Israeli National Mutation database updated and as accurate as possible we need feedback.
Therefore, we'd love to hear from you. Your feedback, comments and suggestions can help us make this database more useful for everyone.
If you have any questions, comments, suggestions, need assistance, or want to contribute new data including new mutations
please contact the primary investigator,
National Coordinator or one of the following collaborators and advisors:
National Coordinator: Joel Zlotogora MD, PhD.
Sjozef van Baal,
Erasmus MC, Medical Genetics,
Rotterdam, The Netherlands