Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

doi:10.1038/ejhg.2013.113

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Article

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

European journal of human genetics : EJHG - 1 Feb 2014

Tran Mau-Them Frederic, Willems Marjolaine, Albrecht Beate, Sanchez Elodie, Puechberty Jacques, Endele Sabine, Schneider Anouck, Ruiz Pallares Nathalie, Missirian Chantal, Rivier Francois, Girard Manon, Holder Muriel, Manouvrier Sylvie, Touitou Isabelle, Lefort Genevieve, Sarda Pierre, Moncla Anne, Drunat Severine, Wieczorek Dagmar, Genevieve David

Abstract excerpt

Intellectual disability (ID) is frequent in the general population, with 1 in 50 individuals directly affected worldwide. The multiple etiologies include X-linked ID (XLID). Among syndromic XLID, few syndromes present severe ID associated with postnatal microcephaly and midline stereotypic hand movements. We report on three male patients with ID, midline stereotypic hand movements, hypotonia, hyperkinesia,...

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Identifiers

PMID: 23674175
DOI: 10.1038/ejhg.2013.113
PMCID: PMC3895633

Genes

IQSEC2
CDKL5
FOXG1
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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