Heart defect - tongue hamartoma - polysyndactyly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Ostravik-Lindemann-Solberg syndrome
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Number of Symptoms
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21
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OrphanetNr:
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1338
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OMIM Id:
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217085
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ICD-10:
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Q87.8
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UMLs:
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C2931046
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MeSH:
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C535849
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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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Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare developmental defect during embryogenesis
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1
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(HPO:0000035)
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Abnormality of the testis |
Frequent [Orphanet]
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296 / 7739
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2
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(HPO:0011802)
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Hamartoma of tongue |
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4 / 7739
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3
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(HPO:0000316)
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Hypertelorism |
rare [HPO:skoehler]
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644 / 7739
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4
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(HPO:0100649)
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Neoplasm of the oral cavity |
Very frequent [Orphanet]
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20 / 7739
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5
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(HPO:0100835)
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Benign neoplasm of the central nervous system |
Frequent [Orphanet]
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12 / 7739
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6
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(HPO:0100259)
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Postaxial polydactyly |
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85 / 7739
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7
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(HPO:0010055)
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Broad hallux |
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56 / 7739
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8
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(HPO:0001162)
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Postaxial hand polydactyly |
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119 / 7739
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9
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(HPO:0001233)
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2-3 finger syndactyly |
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7 / 7739
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10
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(HPO:0006101)
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Finger syndactyly |
Frequent [Orphanet]
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198 / 7739
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11
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(HPO:0001682)
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Subaortic stenosis |
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17 / 7739
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12
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(HPO:0001674)
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Complete atrioventricular canal defect |
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11 / 7739
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13
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(HPO:0001680)
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Coarctation of aorta |
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57 / 7739
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14
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(HPO:0030680)
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Abnormality of cardiovascular system morphology |
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355 / 7739
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15
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(HPO:0001643)
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Patent ductus arteriosus |
Very frequent [Orphanet]
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228 / 7739
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16
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(HPO:0012303)
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Abnormality of the aortic arch |
Very frequent [Orphanet]
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57 / 7739
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17
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(OMIM)
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Tongue hamartoma |
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3 / 7739
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18
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(OMIM)
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Bifid great toe |
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1 / 7739
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19
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(OMIM)
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Leg hypoplasia |
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1 / 7739
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20
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(OMIM)
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Syndactyly digits 3 and 4 |
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1 / 7739
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21
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(OMIM)
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Fibrous subaortic stenosis |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |