Schwere kongenitale Neutropenie-Entwicklungsverzögerung-Syndrom durch SRP54-Mangel
ORPHA:675767· Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
- Prävalenz
- <1 / 1 000 000
- Vererbung
- Autosomal dominant
ORPHA:675767· Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency