Synonyms: Cernunnos XLFD | Cernunnos deficiency | Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome | NHEJ1 deficiency
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly growth retardation and T and B cell lymphopenia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
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