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 "corpus callosum" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • classical phenylketonuria
  • cohen syndrome
  • gm1 gangliosidosis
  • hirschsprung disease
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • kallmann syndrome
  • krabbe disease
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • oligodontia
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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