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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/235730