Mowat-Wilson syndrome

Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects. Children with ...1

... More on Mowat-Wilson syndrome »

Symptoms of Mowat-Wilson syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

... More Symptoms of Mowat-Wilson syndrome »

Causes of Mowat-Wilson syndrome

Cause: Mowat-Wilson syndrome is caused by mutations in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues ...2

... More Causes of Mowat-Wilson syndrome »

Types of Mowat-Wilson syndrome

Some types of this condition may include:3 Types of Mowat-Wilson syndrome:

  • Mowat-Wilson syndrome due to a ZEB2 point mutation
  • Mowat-Wilson syndrome due to monosomy 2q22
... More Types of Mowat-Wilson syndrome »

Genetics of Mowat-Wilson syndrome

Genetic Changes: Mutations in the ZEB2 gene cause Mowat-Wilson syndrome . The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription ...4

... More on Genetics of Mowat-Wilson syndrome »

Names and Terminology

Other Names for This Condition

Source: GHR ...5

... More General Information on Mowat-Wilson syndrome »

   •   •   •

References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ mowat-wilson-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 9673/ mowat-wilson-syndrome
  3. Source: NCI Thesaurus
  4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ mowat-wilson-syndrome
  5. ibid.

   •   •   •

Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.