Mowat-Wilson Syndrome (MOWS)

Alias:
Microcephaly, Mental Retardation, and Distinct Facial Features, with or Without Hirschsprung Disease
Hirschsprung Disease-Intellectual Disability Syndrome
Hirschsprung Disease-Mental Retardation Syndrome
Mowat-Wilson Syndrome Due to Monosomy 2q22
Mows
Microcephaly, Mental Retardation, and Distinct Facial Featrues, with or Without Hirschprung Disease
Hirschsprung Disease and Intellectual Disability Due to a Zeb2 Point Mutation
Hirschsprung Disease and Intellectual Disability Due to 2q22 Microdeletion
Hirschsprung Disease and Intellectual Disability Due to Monosomy 2q22
Hirschsprung Disease and Intellectual Disability Due to Del(2)(q22)
Hirschsprung Disease - Intellectual Disability Syndrome
Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation
Hirschsprung Disease Mental Retardation Syndrome
Mowat-Wilson Syndrome Due to 2q22 Microdeletion
Mowat-Wilson Syndrome Due to Del(2)q(22)
Mws
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mowat-Wilson Syndrome, also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease, is related to muckle-wells syndrome and marden-walker syndrome, and has symptoms including constipation, seizures and vomiting. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include heart and colon, and related phenotypes are intellectual disability and abnormal facial shape
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-9/100000
23
307
83

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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