Congenital myasthenic syndromes with glycosylation defect
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 15 |
| OrphanetNr: | 353327 |
| OMIM Id: |
610542
614750 |
| ICD-10: |
G70.2 |
| 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: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with neurological involvement
-Rare genetic disease -Rare neurologic disease Congenital myasthenic syndromes -Rare eye disease -Rare genetic disease -Rare neurologic disease Disorder of protein N-glycosylation -Rare genetic disease |
Symptom Information:
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(HPO:0000467) | Neck muscle weakness | 29 / 7739 | ||||
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
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(HPO:0000597) | Ophthalmoparesis | 71 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0003473) | Fatigable weakness | 39 / 7739 | ||||
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(HPO:0001270) | Motor delay | rare [HPO:skoehler] | 322 / 7739 | |||
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(HPO:0003388) | Easy fatigability | 34 / 7739 | ||||
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(HPO:0002515) | Waddling gait | 56 / 7739 | ||||
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(HPO:0008180) | Mildly elevated creatine phosphokinase | 28 / 7739 | ||||
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(HPO:0003391) | Gowers sign | 37 / 7739 | ||||
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(HPO:0003403) | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 7 / 7739 | ||||
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(HPO:0007126) | Proximal amyotrophy | 29 / 7739 | ||||
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(HPO:0003394) | Muscle cramps | 106 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003621) | Juvenile onset | 105 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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