" /> Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation - CISMeF





Preferred Label : Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation;

ICD-11 definition : Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.;

ICD-11 synonym : NHEJ1 syndrome; NHEJ1 - [non-homologous end joining factor] syndrome; Combined immunodeficiency due to Cernunnos protein deficiency;

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

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07/05/2025


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