Griscelli syndrome type 2 (Q5609615)

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A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has material basis in mutation in the RAB27A gene on chromosome 15q21.3.
  • GS2
  • Griscelli syndrome with hemophagocytic syndrome
  • Griscelli-PruniĆ©ras syndrome type 2
  • PAID syndrome
  • hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
  • partial albinism and immunodeficiency syndrome
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English
Griscelli syndrome type 2
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has material basis in mutation in the RAB27A gene on chromosome 15q21.3.
  • GS2
  • Griscelli syndrome with hemophagocytic syndrome
  • Griscelli-PruniĆ©ras syndrome type 2
  • PAID syndrome
  • hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
  • partial albinism and immunodeficiency syndrome

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