Workpackage leads

Dr Tjitske. Kleefstra (Nijmegen)

Dr Dagmar Wieczorek (Dusseldorf)

Key objectives

To deal with rare genetic IDs, improve our knowledge and understanding of these disorders, which number in the thousands but are poorly known for the most part.
Description

Deliverables

  • Expert consensus

    Develop a web-based rare ID gene database and wiki to provide access to information on genetic causes of ID. Create and make accessible an ID gene database connected to clinical information and interacting with Orphanet (M36).