Rare Diseases Symptoms Automatic Extraction

Mowat-Wilson syndrome: deafness in the first egyptian case who was conceived by intracytoplasmic sperm injection.

[hirschsprung disease]

Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects. The prevalence of Mowat-Wilson syndrome is currently unknown, but it seems that Mowat-Wilson syndrome is underdiagnosed, particularly in patients without Hirschsprung disease. We report here the first Egyptian case of Mowat-Wilson syndrome who was conceived by intracytoplasmic sperm injection. The patient manifested bilateral sensorineural hearing loss-a new feature not previously reported in cases of Mowat-Wilson syndrome. This report describes the first Egyptian patient of Mowat-Wilson syndrome who was conceived after intracytoplasmic sperm injection, and provides a new evidence for the inclusion of deafness among the congenital defects of the syndrome.

Diseases presenting "epilepsy" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • canavan disease
  • classical phenylketonuria
  • cohen syndrome
  • cowden syndrome
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • pendred syndrome
  • phenylketonuria
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated