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Article

Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome.

Journal of neurodevelopmental disorders - 25 Aug 2025

Smith Melody Reese, Berry-Kravis Elizabeth, Thaliath Andrew, Isenstein Emily L, Durkin Allison R, Foss-Feig Jennifer, Siper Paige M, Nelson Charles A, Baczewski Lauren, Levin April R, Powell Craig M, Pulver Stormi L, Mosconi Matthew W, Kolevzon Alexander, Ethridge Lauren E

Abstract excerpt

BACKGROUND: Phelan-McDermid Syndrome (PMS) is a rare genetic condition characterized by deletion or mutation of region 22q13.3, which includes the SHANK3 gene. Clinical descriptions of this population include severely impaired or absent expressive language, mildly dysmorphic features, neonatal hypotonia, developmental delays, intellectual impairments, and autistic-like traits including abnormal reactivity to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40855273
DOI: 10.1186/s11689-025-09642-4
PMCID: PMC12376477

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