2q31.1 microdeletion syndrome
ORPHA:251014· ICD-10 Q93.5
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal