CEREBELLOPARENCHYMAL DISORDER II
General Information (adopted from Orphanet):
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Synonyms, Signs:
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CPD, LATE-ONSET RECESSIVE TYPE
CPD2
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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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213100
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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:0002317)
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Unsteady gait |
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45 / 7739
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2
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(HPO:0001260)
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Dysarthria |
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329 / 7739
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3
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(HPO:0001251)
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Ataxia |
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413 / 7739
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4
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(HPO:0001250)
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Seizures |
Occasional [HPO:skoehler]
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1245 / 7739
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5
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(OMIM)
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Seizures in some cases |
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1 / 7739
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6
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(OMIM)
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Mild loss of granule cells and dentate neurons |
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1 / 7739
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7
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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8
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(OMIM)
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Inferior olivary nuclei and ponse normal |
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1 / 7739
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9
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(OMIM)
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Absent Purkinje cells |
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1 / 7739
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10
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(OMIM)
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Speech disturbance |
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2 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |