Search results

• Mild forms of tubulinopathies

  Call for Collaboration

• XRCC4-related Microcephalic Dwarfism

  XRCC4

  Call for Collaboration

• ERN-ITHACA Webinar #6 “Innovation in Newborn Screening across Europe”

  Event

• Expanding the phenotypic and genotypic spectrum of neurodevelopmental disorders caused by mono- and biallelic KDM5A pathogenic variants

  KDM5A

  Call for Collaboration

• Delineating the phenotype associated with 5q31 duplications involving PURA

  PURA

  Call for Collaboration

• EuroDysmorpho 2023

  Events

• EuroDysmorpho 2023

  Event

• Webinar #5: “Guidelines development: from patients to guidelines and back”

  Educational videos

• ERN-ITHACA Intermediary Board

  Event

• Menke-Hennekam syndrome

  Menke-Hennekam syndrome.

  Call for Collaboration