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Phelan McDermid Syndrome (22q13 deletion syndrome)

Overview

Phelan-McDermid Syndrome (also known as 22q13 deletion syndrome) is a rare condition with symptoms including developmental delay, language impairments, and autism spectrum disorders.

This project was initiated by families across the world with the goal of coordinating Phelan-McDermid Syndrome patients to contribute DNA sequence data to aid in research efforts.

The main goal of this research is to better understand why patients with different genetic mutations often experience different symptoms. The long-term goal is for more personalised treatments and better prediction of symptoms based on you or your child's DNA.