Catalog

8q21.11 deletion

No MMS code

Link to WHO Definition

8q21.11 deletion – http://id.who.int/icd/entity/983679333

8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.

Parents

Distal deletions of the long arm of chromosome 8