ITHACA-Orphanet partnership

Each HCP is invited to collaborate with ORPHANET to create or update  entries of this European catalogue. As a follow-up on our collaboration with Orphanet, you will find below new publications by ITHACA experts on the syndromes listed below:

ECRD 2020 Interactive Executive Summary – OJRD supplement online

New Orphanet summary reviewed by ITHACA : Hypertelorism, Teebi type

New Orphanet summary reviewed by ITHACA : Mowat-Wilson syndrome

New Orphanet summary reviewed by ITHACA : KBG syndrome

New Orphanet summary reviewed by ITHACA : 22q11.2 deletion syndrome

Additional publications by ITHACA Experts :