Catalog

17p13.3 duplication

No MMS code

Link to WHO Definition

17p13.3 duplication – http://id.who.int/icd/entity/288421473

17p13.3 microduplication syndrome is a chromosomal anomaly characterised by a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth.