Mowat–Wilson syndrome

Also known as: Hirschsprung-intellectual disability syndrome

Intellectual disability with Hirschsprung disease and characteristic facies.

Medical specialty: Genetics
Subspecialty: Genetics / Single-gene syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: ZEB2

Etiology & mechanism

ZEB2 haploinsufficiency.

Gene(s) involved (1)

ZEB2

Symptoms & signs (6)

agenesis of corpus callosumcharacteristic faciesheart defectshirschsprung diseaseintellectual disabilityseizures

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