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Article

Characterisation of the clinical phenotype in Phelan-McDermid syndrome.

Journal of neurodevelopmental disorders - 10 Jul 2021

Burdeus-Olavarrieta Mónica, San José-Cáceres Antonia, García-Alcón Alicia, González-Peñas Javier, Hernández-Jusdado Patricia, Parellada-Redondo Mara

Abstract excerpt

BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). The condition is characterised by global developmental delay, ID, speech impairments, hypotonia and autistic behaviours, although its presentation and symptom...

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Identifiers

PMID: 34246244
DOI: 10.1186/s11689-021-09370-5
PMCID: PMC8272382

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