OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 165098
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:0000271) Abnormality of the face 108 / 7739
2
 (HPO:0007942) Internal ophthalmoplegia 1 / 7739
3
 (HPO:0007824) Total ophthalmoplegia 1 / 7739
4
 (HPO:0000544) External ophthalmoplegia 40 / 7739
5
 (HPO:0000508) Ptosis 459 / 7739
6
 (HPO:0000577) Exotropia 43 / 7739
7
 (OMIM) Chin-up, eyes-down expression 1 / 7739
8
 (OMIM) Iris transillumination 3 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
 (OMIM) Slightly dilated fixed pupils 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: