OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE
General Information (adopted from Orphanet):
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Synonyms, Signs:
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OPCA II, FICKLER-WINKLER TYPE
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Number of Symptoms
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10
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OrphanetNr:
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OMIM Id:
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258300
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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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Autosomal recessive inheritance
[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:0002346)
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Head tremor |
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9 / 7739
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2
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(HPO:0001251)
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Ataxia |
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413 / 7739
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3
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(HPO:0002168)
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Scanning speech |
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10 / 7739
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4
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(HPO:0001260)
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Dysarthria |
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329 / 7739
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5
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(OMIM)
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Albinism in one kindred |
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1 / 7739
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6
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(OMIM)
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No sensory loss |
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1 / 7739
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7
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(OMIM)
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Lack of involuntary movements |
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1 / 7739
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8
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(HPO:0002542)
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Olivopontocerebellar atrophy |
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11 / 7739
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9
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(OMIM)
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Olivopontocerebellar atrophy on CT scan |
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1 / 7739
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10
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |