Catalog

8q22.1 deletion

No MMS code

Link to WHO Definition

8q22.1 deletion – http://id.who.int/icd/entity/115857702

8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern.

Parents

Distal deletions of the long arm of chromosome 8