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Ophthalmoplegia, familial total, with iris transillumination

MedGen UID:
371665
Concept ID:
C1833836
Disease or Syndrome
Synonym: Ophthalmoplegia, Familial Total, with Iris Transillumination
 
Monarch Initiative: MONDO:0008129
OMIM®: 165098

Clinical features

From HPO
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Total ophthalmoplegia
MedGen UID:
57604
Concept ID:
C0155338
Disease or Syndrome
Paralysis of both the extrinsic and intrinsic ocular muscles.
External ophthalmoplegia
MedGen UID:
57662
Concept ID:
C0162292
Disease or Syndrome
Paralysis of the external ocular muscles.
Internal ophthalmoplegia
MedGen UID:
137925
Concept ID:
C0339693
Finding
Paralysis of the iris and ciliary apparatus.

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