2q31.1 microdeletion syndrome
2q31.1 microdeletion syndrome
Definition
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.
Also known as Del(2)(q31.1), monosomy 2q31.1 — per MONDO