Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs.

doi:10.1352/1944-7558.130.5.395

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Article

Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs.

American journal on intellectual and developmental disabilities - 1 Sept 2025

Levy Tess, Farmer Cristan, Srivastava Siddharth, Johnson Kristina, Trayvick Jadyn, Brune Camille, Massa Alexandra, Silver Hailey, Siper Paige M, Zweifach Jessica, Halpern Danielle, Foss-Feig Jennifer H, Bernstein Jonathan A, Berry-Kravis Elizabeth, Powell Craig M, Sahin Mustafa, Soorya Latha Valluripalli, Thurm Audrey, Buxbaum Joseph D, Kolevzon Alexander

Abstract excerpt

The clinical spectrum of Phelan-McDermid syndrome (PMS) is varied, with wide-ranging degrees of intellectual disability, developmental delays, behavioral abnormalities, and medical features. Different types of genetic variation lead to PMS, and differing genotypes (e.g., size of deletion or type of variant) account for some of this variability, with strong associations between genotype and phenotype observed with...

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PMID: 40858310
DOI: 10.1352/1944-7558.130.5.395

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