Rubinstein-Taybi-Syndrom durch EP300-Haploinsuffizienz
ORPHA:353284· ICD-10 Q87.2· Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Prävalenz
- <1 / 1 000 000
- Vererbung
- Autosomal dominant
- Erkrankungsalter
- Neonatal
ORPHA:353284· ICD-10 Q87.2· Rubinstein-Taybi syndrome due to EP300 haploinsufficiency