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Mowat-Wilson syndrome due to a ZEB2 point mutation

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
Monarch Initiative: MONDO:0016856
Orphanet: ORPHA261552

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMowat-Wilson syndrome due to a ZEB2 point mutation

Recent clinical studies


Sasongko TH, Sadewa AH, Gunadi, Lee MJ, Koterazawa K, Nishio H
Kobe J Med Sci 2007;53(4):157-62. PMID: 17932455


Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E
Genes (Basel) 2021 Jun 27;12(7) doi: 10.3390/genes12070982. PMID: 34199024Free PMC Article

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