BPTF-assoziierte neurologische Entwicklungsstörung
ORPHA:686482· ICD-10 Q87.8· BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
- Prävalenz
- <1 / 1 000 000
- Vererbung
- Autosomal dominant
ORPHA:686482· ICD-10 Q87.8· BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome