RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome
ORPHA:686488· RNU4-2-related autosomal dominant neurodevelopmental disorder
- Prevalenza
- <1 / 1 000 000
- Trasmissione
- Autosomal dominant
- Età di esordio
- Antenatal, Neonatal