O'Sullivan-McLeod syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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99965
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OMIM Id:
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ICD-10:
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G12.8
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UMLs:
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C2721741
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MeSH:
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MedDRA:
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10069682
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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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Monomelic amyotrophy
-Rare neurologic disease
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1
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(HPO:0011442)
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Abnormality of central motor function |
Very frequent [Orphanet]
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76 / 7739
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2
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(HPO:0002817)
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Abnormality of the upper limb |
Very frequent [Orphanet]
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25 / 7739
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3
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(HPO:0001324)
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Muscle weakness |
Very frequent [Orphanet]
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859 / 7739
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4
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(HPO:0003457)
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EMG abnormality |
Very frequent [Orphanet]
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78 / 7739
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5
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(HPO:0040065)
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Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
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25 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |