Because the genetic change varies in terms of the size of the deleted segment of chromosome 22 or the specific pathogenic variant of SHANK3, the signs and symptoms of PMS are variable as well and can cause a wide range of medical, intellectual and behavioral challenges. The genetic change that causes PMS can occur sporadically ( de novo) or be inherited from a parent (20%) who carries a related genetic change. Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing (pathogenic) variant of the SHANK3 gene. Stay Informed With NORD’s Email Newsletter.Find a Rare Disease Patient Organization.Rare Disease Cures Accelerator (RDCA-DAP).Find Clinical Trials & Research Studies.Launching Registries & Natural History Studies.
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