ORPHA:169079
Cernunnos-XLF deficiency
Also called Cernunnos XLFD, Cernunnos deficiency, Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, NHEJ1 deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:169079 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Microcephaly
- Bird-like facies
- Sloping forehead
- Bulbous nose
- Convex nasal ridge
- Growth delay