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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.


Cernunnos XLFD

NHEJ1 deficiency

Cernunnos deficiency

Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • ICD-10:D81.1
  • OMIM:611291
has age of onset
has inheritance
has point prevalence range
  • ORPHA:169079
part of
present in