PARIETAL FORAMINA 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PFM3 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
609566
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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: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0002697) | Parietal foramina | 12 / 7739 | ||||
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(HPO:0002695) | Symmetrical, oval parietal bone defects | 5 / 7739 | ||||
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(HPO:0002084) | Encephalocele | 70 / 7739 | ||||
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(HPO:0007385) | Aplasia cutis congenita of scalp | 10 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM | Chen et al. (2003) reported a large Chinese pedigree in which 15 individuals spanning 4 generations had typical features of nonsyndromic PFM. |