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    • Who We Are
    • What are ERNs ?
    • Our EU expert centers
    • Our Patient Associations
    • Our EU partnerships
  • Our Workgroups
    • Neurodevelopmental disorders (WG5)
    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)

    • Teaching & Training (WG8)
    • APOGeE (WG9)
    • European Certificate (WG10)

    • Research & innovation (WG12)
    • Registries (WG7)
  • Our Research Activities
    • ILIAD RD register
    • Calls for collaboration
    • Publications
    • ITHACA Research Meeting
  • Guidelines
    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
    • Patient Journeys
  • Education
    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • ESHG Precision Genomic Medicine Course

    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”

    • Orphanet Updates
    • SysNDD Database

    • Training exchanges

    • Educational videos
  • News & Events
    • Webinars
    • EuroDysmorpho 2025
    • EuroNDD 2026
    • NSEuronet Meeting
    • ERN-ITHACA Winter School

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  • ZNF699-related syndrome: symptoms, mechanisms, and episignature: an extended cohort collection

    ZNF699
    Call for Collaboration
  • The genetic and clinical spectrum of the LINS1-related neurodevelopmental disorder

    LINS1
    Call for Collaboration
  • Further description of the phenotypic spectrum of Diphthamide Deficiency Syndrome 2

    Diphthamide Deficiency Syndrome 2
    Call for Collaboration
  • Further delineation of PPP2CA-related, HOUGE-JANSSENS SYNDROME 3

    PPP2CA, Houge-Janssens syndrome-3
    Call for Collaboration
  • VAMP2-related SNAREopathies: from mechanism to therapeutic approach

    VAMP2
    Call for Collaboration
  • Towards a better understanding of the clinical and molecularspectrum of familial Rubinstein-Taybi syndrome

    Rubsintein-Taybi syndrome
    Call for Collaboration
  • DSCAM monoallelic variants in Neurodevelopmental Disorders

    Down Syndrome Cell Adhesion Molecule (DSCAM)
    Call for Collaboration
  • KAT6A Fetal Cohort – Arboleda-Tham Syndrome

    KAT6A, Arboleda-Tham Syndrome
    Call for Collaboration
  • FEM1C-Related Disorders

    FEMC1
    Call for Collaboration
  • ERN-ITHACA webinar: TSC-associated neuropsychiatric disorders and the TANDem project

    Educational videos

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ERN ITHACA is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/ health/ern

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