Síndrome de neutropenia congénita grave-retraso del desarrollo por deficiencia de SRP54
ORPHA:675767· Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
- Prevalencia
- <1 / 1 000 000
- Herencia
- Autosomal dominant
ORPHA:675767· Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency