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Cernunnos-XLF deficiency

MONDO:0012650

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

Also known as: Cernunnos XLFD, Cernunnos deficiency, Cernunnos-XLF deficiency, NHEJ1 deficiency, combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome, combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, Nhej1 syndrome, SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency

2 clinical trials for this condition and its sub-types, 0 tagged with Cernunnos-XLF deficiency itself.

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