ORPHA:79477
Griscelli syndrome type 2
Also called Griscelli-Pruniéras syndrome type 2, Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
- 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:79477 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Splenomegaly
- Pancytopenia
- Premature graying of hair
- Hepatomegaly
- Immunodeficiency
- Hypopigmentation of hair