Catalog

14q11.2 deletion

No MMS code

Link to WHO Definition

14q11.2 deletion – http://id.who.int/icd/entity/1854856553

14q11.2 microdeletion syndrome is a chromosomal anomaly syndrome characterised by developmental delay, hypotonia and facial dysmorphism (widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and auricular anomalies).