Disease_Mapped_To_Chromosome Disease_Mapped_To_Gene Human Chromosome 22 Phelan-McDermid Syndrome Phelan-McDermid Syndrome PHMDS Phelan-McDermid Syndrome Cellosaurus C157124 Chromosome 22q13.3 Deletion Syndrome Disease or Syndrome C4048800 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. Cellosaurus Disease Terminology Rare Non-Neoplastic Disorder SHANK3 Gene