Phelan-McDermid Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) and or deletion of the SHANK3 gene, encoding SH3 and multiple ankyrin repeat domains protein 3. It is characterized by variable features, which may include intellectual disability, autism spectrum disorder, developmental delay and mild dysmorphic features.

**Synonyms:** - Chromosome 22q13.3 Deletion Syndrome - PHMDS