Expanding the phenotypic spectrum of the ZNF292-associated neurodevelopmental disorder : Call for Collaborative Clinical Research (12)

Further delineate the clinical and molecular spectrum of recessive pathogenic SLC6A9 variants : CALL FOR COLLABORATIVE CLINICAL RESEARCH (8)

ESHG 2020 cancellation

New full members call 2020

5EDA 1-4 April 2020

Rare Disease Day 2020

ERN ITHACA+SKIN Subregistry

EJP-RD International Course

Rare 2030 Panel of Experts

Solve RD – ultrarares

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Solve RD – unsolvables

ITHACA and Solve-RD have identified 5 recurrent conditions that have not been resolved: Aicardi, Pai, Hallerman-Streiff, Gomez-Lopez-Hernandez, and OAFN (oculo-auriculo-fronto-nasal) syndrome.

ORPHANET partnership

ITHACA board meeting