ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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11
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OrphanetNr:
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OMIM Id:
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600907
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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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Sporadic
[Omim]
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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:0006297)
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Hypoplasia of dental enamel |
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64 / 7739
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2
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(HPO:0006358)
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Shovel-shaped maxillary central incisors |
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3 / 7739
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3
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(HPO:0000678)
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Dental crowding |
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65 / 7739
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4
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(HPO:0000523)
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Subcapsular cataract |
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12 / 7739
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5
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(HPO:0002315)
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Headache |
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175 / 7739
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6
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(HPO:0003745)
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Sporadic |
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131 / 7739
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7
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(HPO:0002119)
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Ventriculomegaly |
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253 / 7739
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8
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(HPO:0002410)
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Aqueductal stenosis |
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19 / 7739
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9
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(OMIM)
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Anterior overbite |
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2 / 7739
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10
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(OMIM)
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Hypomaturation-hypocalcification enamel hypoplasia (primary and permanent teeth) |
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1 / 7739
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11
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(OMIM)
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Normal intelligence |
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81 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |