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Mowat-Wilson syndrome MeSH Supplementary Concept Data 2026


MeSH Supplementary
Mowat-Wilson syndrome
Unique ID
C536990
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536990
Entry Term(s)
Hirschsprung Disease-Mental Retardation Syndrome
Hirschsprung disease mental retardation syndrome
Microcephaly, Mental Retardation, and Distinct Facial Features, with Or without Hirschsprung Disease
Registry Numbers
0
Heading Mapped to
*Hirschsprung Disease
*Intellectual Disability
*Microcephaly
*Facies
Frequency
88
Note
A rare developmental disorder that occurs in 1 in 50,000-70,000 births. The most severe cases are characterized by intellectual disability, delayed motor development, EPILEPSY, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. De novo autosomal dominant mutations in the ZEB2 gene have been identified. OMIM: 235730
Date Introduced
2010/08/25
Last Updated
2015/08/18
Mowat-Wilson syndrome Preferred
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