Neurological Phenotype of Mowat-Wilson Syndrome.

Abstract excerpt

Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). The ZEB2 gene is a widely expressed regulatory gene, extremely important for the proper prenatal development. MWS is characterized by a specific facial gestalt and multiple musculoskeletal, cardiac, gastrointestinal, and urogenital anomalies. The nervous system involvement is extensive and...

Topics

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• Abnormalities, Multiple
• Embryonic Development
• Facies
• Hirschsprung Disease
• Intellectual Disability