Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:228423

GATA2 deficiency spectrum

Also called GATA binding protein 2 deficiency spectrum

Body system
Immunological diseases
Inheritance pattern
Autosomal dominant, Not applicable
Typical age of onset
Adult
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:228423 is classified under "Immunological diseases" in the Orphanet nomenclature.

Common signs

  • Sensorineural hearing impairment
  • Lymphedema
  • Thrombocytopenia
  • Abnormality of speech or vocalization
  • Acute leukemia
  • Respiratory failure