Синдром мікроделеції 2q31.1
ORPHA:251014· ICD-10 Q93.5· 2q31.1 microdeletion syndrome
Визначення(English summary)
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
- Поширеність
- Unknown
- Успадкування
- Not applicable, Unknown
- Вік початку
- Infancy, Neonatal