Hypomyelination neuropathy - arthrogryposis
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Boylan-Dew syndrome
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Number of Symptoms
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6
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OrphanetNr:
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2680
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OMIM Id:
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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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Arthrogryposis multiplex congenita
-Rare developmental defect during embryogenesis
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1
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(HPO:0001315)
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Reduced tendon reflexes |
Very frequent [Orphanet]
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160 / 7739
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2
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(HPO:0001387)
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Joint stiffness |
Very frequent [Orphanet]
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322 / 7739
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3
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(HPO:0002093)
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Respiratory insufficiency |
Very frequent [Orphanet]
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410 / 7739
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4
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(HPO:0003457)
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EMG abnormality |
Very frequent [Orphanet]
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78 / 7739
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5
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(HPO:0001252)
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Muscular hypotonia |
Very frequent [Orphanet]
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990 / 7739
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6
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(HPO:0030089)
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Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
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64 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |