OPHTHALMOPLEGIA, FAMILIAL STATIC

General Information (adopted from Orphanet):

Synonyms, Signs: EXTERNAL OPHTHALMOPLEGIA, NONPROGRESSIVE, CONGENITAL HEREDITARY
Number of Symptoms 6
OrphanetNr:
OMIM Id: 165000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000602) Ophthalmoplegia 56 / 7739
2
(HPO:0009916) Anisocoria 11 / 7739
3
(HPO:0000508) Ptosis 459 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Nystagmoid eye movements 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lees (1960) described congenital static familial ophthalmoplegia. Ptosis, almost completely fixed eyes, nystagmoid movements, and unequal pupils were features. Males in 3 successive generations and 7 persons in all were affected. Lees (1960) thought the lesion to be ...