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