About PMS

Phelan-McDermid syndrome (PMS), also known as 22q13 deletion syndrome, is a genetic condition that can cause a wide range of problems from medical issues to autism.
PMS results from deletions or mutations in the genetic code on the tail end of chromosome 22 (22q13). Studies of microdeletions and mutations implicate the SHANK3 gene as the major causal factor of PMS.   In about 10% of the cases, the genetic problem can be inherited from the parents, even if the parents have no symptoms.