OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 258400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive 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:0000486) Strabismus 576 / 7739
3
(HPO:0000646) Amblyopia 42 / 7739
4
(HPO:0000508) Ptosis 459 / 7739
5
(HPO:0000616) Miosis 11 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Decreased pupillary accommodation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Total ophthalmoplegia involves total paralysis of all extra- and intraocular muscles. If one or more of the external muscles, including the levator palpebrae, is not affected, the condition is known as incomplete or partial ophthalmoplegia. If only 1 ...
Clinical Description OMIM Waardenburg (1963) discussed familial cases of total ophthalmoplegia including those described by Li (1923) and Waardenburg (1924). Waardenburg (1924) had observed a large, 6-generation, consanguineous pedigree in which 3 of 10 sibs in one sibship and 2 of ...