MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 10 |
OrphanetNr: | |
OMIM Id: |
616313
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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:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000276) | Long face | 109 / 7739 | ||||
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(HPO:0000275) | Narrow face | 76 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000602) | Ophthalmoplegia | 56 / 7739 | ||||
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(HPO:0003388) | Easy fatigability | 34 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | rare [HPO:skoehler] | 220 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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