Variants
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Cernunnos-XLF deficiency

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Description

Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

ORDO

  • Mode of Inheritance

    VARIANTS

    44

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM

      611291

    • Orphanet

      169079

    • HPO
    • Medgen

      C1969799

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