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Mowat-Wilson syndrome; Hirschsprung disease-mental retardation syndrome
Pathology:
- wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, & vagal levels
Genetics:
- associated with defects in ZEB2
Clinical manifestations:
- developmental disorder
- mental retardation
- delayed motor development
- epilepsy
- microcephaly
- some patients manifest Hirschsprung disease
- easily recognizable facial appearance with deep set eyes & hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin & uplifted, notched ear lobes
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 235730
References
OMIM :accession 235730