ORPHA:675767
Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
Also called SCN-developmental delay syndrome due to SRP54 deficiency, Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Not documented in Orphadata
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:675767 is classified under "Immunological diseases" in the Orphanet nomenclature.