Duane anomaly - myopathy - scoliosis
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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50817
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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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2
cases
[Orphanet]
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Inheritance:
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Autosomal recessive
[Orphanet]
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Age of onset:
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Childhood
[Orphanet]
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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:0000252)
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Microcephaly |
Very frequent [Orphanet]
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832 / 7739
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2
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(HPO:0000486)
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Strabismus |
Very frequent [Orphanet]
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576 / 7739
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3
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(HPO:0000639)
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Nystagmus |
Very frequent [Orphanet]
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555 / 7739
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4
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(HPO:0000572)
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Visual loss |
Very frequent [Orphanet]
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272 / 7739
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5
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(HPO:0000496)
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Abnormality of eye movement |
Very frequent [Orphanet]
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79 / 7739
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6
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(HPO:0000597)
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Ophthalmoparesis |
Very frequent [Orphanet]
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71 / 7739
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7
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(HPO:0002750)
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Delayed skeletal maturation |
Very frequent [Orphanet]
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250 / 7739
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8
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(HPO:0002650)
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Scoliosis |
Very frequent [Orphanet]
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705 / 7739
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9
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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10
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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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11
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(HPO:0003198)
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Myopathy |
Very frequent [Orphanet]
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151 / 7739
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12
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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 |