Phelan-Mcdermid Syndrome (PHMDS)

Phelan-Mcdermid Syndrome, also known as chromosome 22q13.3 deletion syndrome, is related to autism spectrum disorder and autism, and has symptoms including reflex, abnormal and seizures. An important gene associated with Phelan-Mcdermid Syndrome is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3), and among its related pathways/superpathways are Protein-protein interactions at synapses and Disruption of postsynaptic signaling by CNV. The drugs Lithium carbonate and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are macrotia and delayed speech and language development