2q31.1 microdeletion syndrome
2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
MONDO:0016901
partial deletion of the long arm of chromosome 2
is_a
Del(2)(q31.1)
exact
monosomy 2q31.1
exact