ORPHA:99843
Leukocyte adhesion deficiency type II
Also called CDG syndrome type IIc, CDG-IIc, CDG2C, LAD-II, Rambam-Hasharon syndrome, SLC35C1-CDG
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood, Infancy
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:99843 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Coarse facial features
- Failure to thrive
- Anemia
- Increased total leukocyte count
- Recurrent infections
- Short stature