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Genetics · Genetics / Single-gene syndromes

Mowat–Wilson syndrome

also: Hirschsprung-intellectual disability syndrome

Intellectual disability with Hirschsprung disease and characteristic facies.

Specialty
Genetics
Subspecialty
Genetics / Single-gene syndromes
Sex & age distribution
Male: affected; Female: affected, equal; Children: yes
Gene(s) involved
ZEB2
Alternative names & eponyms
Hirschsprung-intellectual disability syndrome

Etiology & mechanism

ZEB2 haploinsufficiency.

Gene(s) involved (1)

Symptoms & signs (6)

In plain terms, someone with Mowat–Wilson syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

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