Orphanet: Gecombineerde immuundeficientie microcefalie groeiachterstand gevoeligheid voor ioniserende bestraling

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Cernunnos-XLF deficiency

Disease definition

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


Classification level: Disorder
  • Synonym(s):
    • Cernunnos XLFD
    • Cernunnos deficiency
    • Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
    • NHEJ1 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.1
  • OMIM: 611291
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.