Синдром мікроделеції 2q23.1
ORPHA:228402· ICD-10 Q93.5· 2q23.1 microdeletion syndrome
Визначення(English summary)
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Not applicable, Unknown
- Вік початку
- Infancy, Neonatal