Catalog

2q31.1 deletion

No MMS code

Link to WHO Definition

2q31.1 deletion – http://id.who.int/icd/entity/491362822

2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly.