Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
ORPHA:453504· ICD-10 Q87.8
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Neonatal
ORPHA:453504· ICD-10 Q87.8