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. The disease is 2q31.1 microdeletion syndrome (MONDO_0016652, a Monarch Disease Ontology entry). Also known as: Del(2)(q31.1), monosomy 2q31.1.