Koolen-De Vries-Syndrom durch Punktmutation
ORPHA:363965· ICD-10 Q87.8· Koolen-De Vries syndrome due to a point mutation
- Prävalenz
- <1 / 1 000 000
- Vererbung
- Autosomal dominant
- Erkrankungsalter
- Infancy, Neonatal
ORPHA:363965· ICD-10 Q87.8· Koolen-De Vries syndrome due to a point mutation