FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C
General Information (adopted from Orphanet):
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Synonyms, Signs:
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CFEOM3C
FEOM4 LOCUS
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Number of Symptoms
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13
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OrphanetNr:
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OMIM Id:
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609384
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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 dominant 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:0002553)
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Highly arched eyebrow |
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92 / 7739
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2
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(HPO:0000219)
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Thin upper lip vermilion |
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112 / 7739
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3
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(HPO:0009891)
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Underdeveloped supraorbital ridges |
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36 / 7739
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4
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(HPO:0007911)
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Congenital bilateral ptosis |
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2 / 7739
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5
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(HPO:0007867)
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Restrictive partial external ophthalmoplegia |
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1 / 7739
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6
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(HPO:0001491)
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Congenital fibrosis of extraocular muscles |
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9 / 7739
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7
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(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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8
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(HPO:0000767)
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Pectus excavatum |
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244 / 7739
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9
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(HPO:0002808)
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Kyphosis |
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289 / 7739
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10
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(OMIM)
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Restrictive partial ophthalmoplegia |
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1 / 7739
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11
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(OMIM)
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Inability to raise eyes above horizontal midline |
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1 / 7739
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12
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(OMIM)
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Balanced/unbalanced chromosomal translocation t(2,13)(q36,q11) |
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1 / 7739
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13
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |