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Mowat-Wilson syndrome due to a ZEB2 point mutation

MedGen UID:: 1842263
•Concept ID:: C5679681
•: Disease or Syndrome

Synonym:	Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

Monarch Initiative:	MONDO:0016856
Orphanet:	ORPHA261552

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMowat-Wilson syndrome due to a ZEB2 point mutation

Monogenic epilepsy
- Mowat-Wilson syndrome
  - Mowat-Wilson syndrome due to a ZEB2 point mutation

Recent clinical studies

Diagnosis

Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.

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

Prognosis

Neurological Phenotype of Mowat-Wilson Syndrome.

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: 34199024 Free PMC Article

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