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Genetic and Rare Diseases Information Center (GARD)

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Mowat-Wilson syndrome

Other Names for this Disease
  • Hirschsprung disease mental retardation syndrome
  • Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease
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Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person.[1][2]
Last updated: 3/10/2014


  1. Mowat-Wilson Syndrome. NORD. 2006; Accessed 5/14/2011.
  2. Livia Garavelli and Paola Cerruti Mainardi. Mowat-Wilson syndrome. Orphanet Journal of Rare Diseases. 2007; 2(42): Accessed 3/10/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Mowat-Wilson syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mowat-Wilson syndrome. Click on the link to view a sample search on this topic.