Catalog

16p11.2p12.2 deletion

No MMS code

Link to WHO Definition

16p11.2p12.2 deletion – http://id.who.int/icd/entity/1240878437

16p11.2-p12.2 microdeletion syndrome is a chromosomal anomaly characterised by developmental delay and facial dysmorphism (flat facies, downslanting palpebral fissures, low-set and malformed ears).