Phelan-McDermid Syndrome (PMS) is a rare genetic syndrome in which one copy of the q13 portion of chromosome 22 is missing. The neurological and psychiatric phenotypes are due to loss of the SHANK3 gene contained in this region of the genome. Mutations in the SHANK3 gene also produce a syndrome with the neurological and behavioral aspects of PMS.

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New Shank3 Gene Research

Recently there has been an increase in the volume of research devoted to the SHANK3 gene mutation as a cause of autism spectrum disorders (ASD). Below we have compiled a selection of these recent studies. Shank mutant mice as an animal model of autism: This review describes the effect of the Shank family of proteins [...]

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Testing & Evaluation

Families coping with a diagnosis of Phelan-McDermid Syndrome, 22q13 Deletion Syndrome, or a SHANK3 mutation or who are looking to learn more about the condition have resources available to them.

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The Seaver Autism Center at the Icahn School of Medicine at Mount Sinai

The Seaver Autism Center offers comprehensive assessment and care for people with developmental delay, including autism spectrum conditions and associated disorders. The Center works with families affected with Phelan-McDermid Syndrome, 22q13 Deletion Syndrome, and SHANK3 mutations.

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