From HPO
Abnormal cranial nerve morphology- MedGen UID:
- 344302
- •Concept ID:
- C1854510
- •
- Anatomical Abnormality
Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Abnormal mitochondria in muscle tissue- MedGen UID:
- 867188
- •Concept ID:
- C4021546
- •
- Anatomical Abnormality
An abnormality of the mitochondria in muscle tissue.
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).
Ophthalmoplegia- MedGen UID:
- 45205
- •Concept ID:
- C0029089
- •
- Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system