Mowat-Wilson syndrome [Supplementary Concept]

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: August 25, 2010

MeSH Unique ID: C536990

Heading Mapped to:

• Hirschsprung Disease
• Intellectual Disability
• Microcephaly
• Facies

Entry Terms:

• Hirschsprung disease mental retardation syndrome
• Hirschsprung Disease-Mental Retardation Syndrome
• Microcephaly, Mental Retardation, and Distinct Facial Features, with Or without Hirschsprung Disease