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Article

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

European journal of medical genetics - 1 Apr 2021

Coursimault Juliette, Lecoquierre François, Saugier-Veber Pascale, Drouin-Garraud Valérie, Lechevallier Joël, Boland Anne, Deleuze Jean-François, Frebourg Thierry, Nicolas Gaël, Brehin Anne-Claire

Abstract excerpt

CHD3-related syndrome, also known as Snijders Blok-Campeau syndrome, is a rare developmental disorder described in 2018, caused by de novo pathogenic variants in the CHD3 gene. This syndrome is characterized by global developmental delay, speech delay, intellectual disability, hypotonia and behavioral disorders including autism spectrum disorder (ASD). Typical dysmorphic features include macrocephaly,...

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Identifiers

PMID: 33571694
DOI: 10.1016/j.ejmg.2021.104166

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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