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 "microcephaly" symptom

  • 22q11.2 deletion syndrome
  • alpha-thalassemia
  • coats disease
  • cohen syndrome
  • congenital toxoplasmosis
  • dentin dysplasia
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • monosomy 21
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • wolf-hirschhorn syndrome

This symptom has already been validated