MUSCULAR HYPERTONIA, LETHAL
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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OMIM Id:
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254120
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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:0002375)
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Hypokinesia |
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25 / 7739
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2
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(HPO:0001276)
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Hypertonia |
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317 / 7739
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3
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(HPO:0001558)
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Decreased fetal movement |
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74 / 7739
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4
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(HPO:0001537)
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Umbilical hernia |
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206 / 7739
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5
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(HPO:0001626)
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Abnormality of the cardiovascular system |
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73 / 7739
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6
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(HPO:0002090)
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Pneumonia |
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59 / 7739
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7
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(OMIM)
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Congenital severe generalized muscular hypertonia |
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1 / 7739
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8
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(OMIM)
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Cardiopulmonary distress |
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1 / 7739
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9
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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10
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(OMIM)
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Pharyngoesophageal dyskinesia |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |