Catalog

1q41q42 deletion

No MMS code

Link to WHO Definition

1q41q42 deletion – http://id.who.int/icd/entity/740947783

1q41q42 microdeletion syndrome is a chromosomal anomaly characterised by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.