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Hoyeraal-Hreidarsson syndrome

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Description

Hoyeraal-Hreidarsson syndrome is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation.

OMIM

  • Mode of Inheritance

    VARIANTS

    65

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM
    • Orphanet

      3322

    • HPO
    • Medgen

      C1846142

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