Mowat-Wilson syndrome

(redirected from Hirschsprung disease-mental retardation syndrome)

Mowat-Wilson syndrome

An autosomal dominant developmental disorder (OMIM:235730) characterised by mental retardation, delayed motor development, epilepsy, and clinically heterogeneous features suggestive of cephalic, cardiac and vagal neurocristopathies.

Molecular pathology
Defects in ZEB2, which encodes a protein that inhibits E-cadherin transcription, cause Mowat-Wilson syndrome.
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