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Article

The behavioral phenotype of Mowat-Wilson syndrome.

American journal of medical genetics. Part A - 1 Feb 2012

Evans Elizabeth, Einfeld Stewart, Mowat David, Taffe John, Tonge Bruce, Wilson Meredith

Abstract excerpt

Mowat-Wilson syndrome (MWS) is caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease. The current study investigated the...

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Source

Identifiers

PMID: 22246645
DOI: 10.1002/ajmg.a.34405

Genes

ZEB2

Provenance

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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