Ernstige congenitale neutropenie - ontwikkelingsachterstand-syndroom door SRP54-deficiëntie
ORPHA:675767· Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
- Prevalentie
- <1 / 1 000 000
- Overerving
- Autosomal dominant
ORPHA:675767· Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency