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

Synonyms:

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
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079
hasDbXref
  • ICD-10:D81.1
  • OMIM:611291
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409945
  • http://www.orpha.net/ORDO/Orphanet_409944
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409979
notation
  • ORPHA:169079
part of
  • http://www.orpha.net/ORDO/Orphanet_480549
  • http://www.orpha.net/ORDO/Orphanet_183422
present in
  • http://www.orpha.net/ORDO/Orphanet_409991