Catalog

6p23pter duplication

No MMS code

Link to WHO Definition

6p23pter duplication – http://id.who.int/icd/entity/567366963

Distal trisomy of the short arm of chromosome 6 is a chromosomal anomaly characterised by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes: blepharophimosis, upper lid ptosis, close-set eyes), microcephaly, and developmental delay.