MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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4
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OrphanetNr:
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OMIM Id:
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254190
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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:0007970)
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Congenital ptosis |
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7 / 7739
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2
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(HPO:0000544)
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External ophthalmoplegia |
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40 / 7739
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3
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(OMIM)
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Postsynaptic defect of neuromuscular transmission |
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1 / 7739
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4
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(OMIM)
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Proximal muscle weakness and fatigability unresponsive to acetylcholinesterase inhibitors |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |