BPTF-gerelateerd intellectuele achterstand - faciale dysmorfie - skeletanomalieën-syndroom
ORPHA:686482· ICD-10 Q87.8· BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
- Prevalentie
- <1 / 1 000 000
- Overerving
- Autosomal dominant