Orphanet: Mowat Wilson syndrome de Hirschsprung maladie de retard mental

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Mowat-Wilson syndrome

Disease definition

A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.


Classification level: Disorder
  • Synonym(s):
    • Hirschsprung disease-intellectual disability syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q43.1
  • OMIM: 235730
  • UMLS: C1856113
  • MeSH: C536990
  • GARD: 9673
  • MedDRA: -

Detailed information

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