Rare Diseases Symptoms Automatic Extraction

ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome.

[hirschsprung disease]

Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies. We report a 2-year-10-month-old white female with this syndrome caused by mutations in the ZEB2 gene, and in addition a duplication of the 22q11.23, a previously undocumented occurrence.

Diseases presenting "hirschsprung disease" symptom

  • hirschsprung disease
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • megacystis-microcolon-intestinal hypoperistalsis syndrome

This symptom has already been validated