Catalog

22q13 deletion

No MMS code

Link to WHO Definition

22q13 deletion – http://id.who.int/icd/entity/1667492731

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.