MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
248400
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| ICD-10: |
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| 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: | No data available. |
Symptom Information:
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0005321) | Mandibulofacial dysostosis | 7 / 7739 | ||||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0000652) | Lower eyelid coloboma | 9 / 7739 | ||||
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(HPO:0000356) | Abnormality of the outer ear | 85 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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