Mowat-Wilson syndrome

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Mowat-Wilson syndrome2016-11-27T09:12:27+00:00

Mowat-Wilson syndrome 

EMBRYOLOGY

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. 

Synonyms Hirschsprung disease-mental retardation syndrome, microcephaly—mental retardation—and distinct facial features—with or without Hirschsprung disease

References http://www.omim.org/entry/235730 

http://www.uniprot.org/uniprot/O60315

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