ORPHA:99812
LIG4 syndrome
Also called DNA ligase IV syndrome, SCID with macrocephaly due to DNA ligase IV 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:99812 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Microcephaly
- Bird-like facies
- Global developmental delay
- Growth delay
- Immunodeficiency
- Abnormality of chromosome stability