2q31.1 microdeletion syndrome
From BugSigDB
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.
- Aliases
- 2q31.1 microdeletion syndrome
- Del(2)(q31.1)
- Monosomy 2q31.1
- monosomy 2q31.1
