MeSH Browser

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 Number: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Mowat-Wilson syndrome MeSH Supplementary Concept Data 2024