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Article

Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome.

European journal of medical genetics - 1 May 2023

Burdeus-Olavarrieta Monica, Nevado Julián, van Weering-Scholten Sabrina, Parker Susanne, Swillen Ann

Abstract excerpt

Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other clinical characteristics to a variable degree, such as hypotonia or psychiatric comorbidities. A set of clinical guidelines for health professionals covering...

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Identifiers

PMID: 36871884
DOI: 10.1016/j.ejmg.2023.104745

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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