Mowat-Wilson Syndrome (MOWS)

Mowat-Wilson Syndrome(来自ICD-11)
别称:
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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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
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MALACARDS
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1-9/100000
23
307
83

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