MYASTHENIC SYNDROME, CONGENITAL, 15
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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7
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OrphanetNr:
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OMIM Id:
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616227
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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:0000508)
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Ptosis |
1/7 [HPO:probinson]
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459 / 7739
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2
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(HPO:0003473)
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Fatigable weakness |
2/2 [HPO:probinson]
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39 / 7739
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3
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(HPO:0002359)
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Frequent falls |
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24 / 7739
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4
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(HPO:0002828)
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Multiple joint contractures |
6/7 [HPO:probinson]
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16 / 7739
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5
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(HPO:0003403)
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EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
5/5 [HPO:probinson]
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7 / 7739
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6
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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7
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(HPO:0030205)
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Increased jitter at single fibre EMG |
4/4 [HPO:probinson]
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |