Catalog

2p15p16.1 deletion

No MMS code

Link to WHO Definition

2p15p16.1 deletion – http://id.who.int/icd/entity/1407509131

2p15p16.1 microdeletion syndrome is a chromosomal anomaly characterised by developmental delay and facial dysmorphism (receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip).