Catalog

3q23 deletion

No MMS code

Link to WHO Definition

3q23 deletion – http://id.who.int/icd/entity/249272729

Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.