Rare Zebra

Rare disease search prototype built on Orphanet data

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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