Синдром мікроделеції 16p13.11
ORPHA:261236· ICD-10 Q93.5· 16p13.11 microdeletion syndrome
Визначення(English summary)
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant, Not applicable
- Вік початку
- Infancy, Neonatal