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Mowat-Wilson syndrome due to a ZEB2 point mutation

ORPHA:261552

Classification level: Subtype of disorder
  • Synonym(s):
    • Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q43.1
  • ICD-11: LD2F.1Y
  • OMIM: 235730
  • UMLS: C5679681
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

This disease is described under Mowat-Wilson syndrome

Detailed information

General public

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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