Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- Synonyms
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5
Available tests
Clinical tests (9 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Cardiac arrhythmia
Cardiac arrhythmia
- MedGen UID: 2039
- Concept ID: C0003811
- Finding: Finding
Abnormality of the cardiovascular system
- Mildly reduced left ventricular ejection fraction
Mildly reduced left ventricular ejection fraction
- MedGen UID: 868399
- Concept ID: C4022793
- Finding: Finding
Abnormality of the cardiovascular system
- Cardiac arrhythmia
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Nasal regurgitation
Nasal regurgitation
- MedGen UID: 488797
- Concept ID: C0232608
- Finding: Sign or Symptom
Abnormality of the digestive system
- Dysphagia
- Abnormality of the eye
- Diplopia
Diplopia
- MedGen UID: 41600
- Concept ID: C0012569
- Finding: Disease or Syndrome
Abnormality of the eye
- Progressive external ophthalmoplegia
Progressive external ophthalmoplegia
- MedGen UID: 102439
- Concept ID: C0162674
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Diplopia
- Abnormality of the musculoskeletal system
- Neck flexor weakness
Neck flexor weakness
- MedGen UID: 334801
- Concept ID: C1843637
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Neck flexor weakness
- Abnormality of the nervous system
- Broad-based gait
Broad-based gait
- MedGen UID: 167799
- Concept ID: C0856863
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Sensory neuropathy
Sensory neuropathy
- MedGen UID: 101791
- Concept ID: C0151313
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Broad-based gait
- Constitutional symptom
- Exercise intolerance
Exercise intolerance
- MedGen UID: 603270
- Concept ID: C0424551
- Finding: Finding
Constitutional symptom
- Exercise intolerance
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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