ORPHA:369852
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Also called VPS45 deficiency, Vacuolar sorting protein 45 deficiency, Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:369852 is classified under "Immunological diseases" in the Orphanet nomenclature.