Fetal brain disruption sequence
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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1665
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OMIM Id:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000252)
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Microcephaly |
Very frequent [Orphanet]
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832 / 7739
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2
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(HPO:0000269)
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Prominent occiput |
Very frequent [Orphanet]
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43 / 7739
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3
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(HPO:0001357)
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Plagiocephaly |
Very frequent [Orphanet]
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106 / 7739
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4
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(HPO:0001276)
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Hypertonia |
Very frequent [Orphanet]
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317 / 7739
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5
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(HPO:0000834)
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Abnormality of the adrenal glands |
Occasional [Orphanet]
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14 / 7739
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6
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(HPO:0010515)
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Aplasia/Hypoplasia of the thymus |
Occasional [Orphanet]
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17 / 7739
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7
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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8
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(HPO:0002120)
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Cerebral cortical atrophy |
Very frequent [Orphanet]
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187 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |