Catalog

17q11.2 duplication

No MMS code

Link to WHO Definition

17q11.2 duplication – http://id.who.int/icd/entity/1102310242

17q11.2 microduplication syndrome is a chromosomal anomaly characterised by craniofacial dysmorphic features including microcephaly, long midface, malar hypoplasia, sparse eyebrows and thin upper lip, and intellectual deficit, early onset of baldness (15 years of age) and dental enamel hypoplasia.