Mowat-Wilson syndrome due to monosomy 2q22
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Mowat-Wilson syndrome due to del(2)q(22) Hirschsprung disease and intellectual deficit due to del(2)(q22) Hirschsprung disease and intellectual deficit due to monosomy 2q22 Mowat-Wilson syndrome due to 2q22 microdeletion Hirschsprung disease and intellectual deficit due to 2q22 microdeletion |
| Number of Symptoms | 4 |
| OrphanetNr: | 261537 |
| OMIM Id: |
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| ICD-10: |
Q43.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mowat-Wilson syndrome
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Partial deletion of the long arm of chromosome 2 -Rare developmental defect during embryogenesis -Rare genetic disease |
Comment:
| Involved genes: ZEB2 / ZFHX1B (PMID:17223398); |
Symptom Information:
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(HPO:0001999) | Abnormal facial shape | 17223398 | IBIS | 169 / 7739 | ||
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(HPO:0000252) | Microcephaly | 17223398 | IBIS | 832 / 7739 | ||
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(HPO:0001249) | Intellectual disability | 17223398 | IBIS | 1089 / 7739 | ||
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(HPO:0002251) | Aganglionic megacolon | 17223398 | IBIS | 78 / 7739 |
Associated genes:
| ZEB2; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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