MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
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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OMIM Id:
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615673
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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:0002310)
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Orofacial dyskinesia |
10/15 [HPO:probinson]
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10 / 7739
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2
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(HPO:0001337)
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Tremor |
10/15 [HPO:probinson]
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200 / 7739
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3
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(HPO:0002072)
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Chorea |
10/15 [HPO:probinson]
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53 / 7739
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4
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(HPO:0001332)
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Dystonia |
10/15 [HPO:probinson]
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197 / 7739
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5
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(HPO:0002071)
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Abnormality of extrapyramidal motor function |
10/15 [HPO:probinson]
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76 / 7739
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6
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(HPO:0001328)
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Specific learning disability |
15/15 [HPO:probinson]
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114 / 7739
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7
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(HPO:0003701)
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Proximal muscle weakness |
15/15 [HPO:probinson]
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105 / 7739
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8
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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 |