Congenital fibrosis of extraocular muscles
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FEOM |
| Number of Symptoms | 9 |
| OrphanetNr: | 45358 |
| OMIM Id: |
135700
600638 602078 609384 609428 609612 |
| ICD-10: |
H49.8 |
| 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 dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Progressive muscular dystrophy
-Rare genetic disease -Rare neurologic disease Ptosis -Rare eye disease -Rare genetic disease Syndrome with a symptomatic strabismus -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000577) | Exotropia | 43 / 7739 | ||||
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(HPO:0012241) | Levator palpebrae superioris atrophy | 3 / 7739 | ||||
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(HPO:0007936) | Restrictive external ophthalmoplegia | 3 / 7739 | ||||
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(HPO:0001488) | Bilateral ptosis | 42 / 7739 | ||||
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(HPO:0001491) | Congenital fibrosis of extraocular muscles | 9 / 7739 | ||||
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(HPO:0000565) | Esotropia | 58 / 7739 | ||||
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(HPO:0001477) | Compensatory chin elevation | 5 / 7739 | ||||
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(HPO:0012242) | Superior rectus atrophy | 3 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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