Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
External ophthalmoplegia, progressive
Very frequent (80-99%)HP:0000590
Pigmentary retinopathy
Very frequent (80-99%)HP:0000580
Third-degree heart block
Very frequent (80-99%)HP:0001709
Abnormal electromyography finding
Frequent (30-79%)HP:0003457
Anterior hypopituitarism
Frequent (30-79%)HP:0000830
Ataxia
Frequent (30-79%)HP:0001251
Central hypotonia
Frequent (30-79%)HP:0001252
Diminished deep tendon reflexes
Frequent (30-79%)HP:0001315
Elevated csf protein
Frequent (30-79%)HP:0002922
Eye drop
Frequent (30-79%)HP:0000508
Hearing impairment
Frequent (30-79%)HP:0000365
Muscle wasting
Frequent (30-79%)HP:0003202
Progressive intervertebral space narrowing
Frequent (30-79%)HP:0004622
Ragged-red muscle fibers
Frequent (30-79%)HP:0003200
CKD
Occasional (5-29%)HP:0012622
Cognitive deficits
Occasional (5-29%)HP:0100543
Decreased body height
Occasional (5-29%)HP:0004322
Deglutition disorder
Occasional (5-29%)HP:0002015
Delayed puberty
Occasional (5-29%)HP:0000823
Diabetes mellitus
Occasional (5-29%)HP:0000819
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Flaccid neck
Occasional (5-29%)HP:0000467
Hypoparathyroidism
Occasional (5-29%)HP:0000829
Muscle weakness
Occasional (5-29%)HP:0001324
Paralysis or weakness of one side of body
Occasional (5-29%)HP:0004374
Poor exercise tolerance
Occasional (5-29%)HP:0003546
Progressive dementia
Occasional (5-29%)HP:0000726
Renal tubular acidosis
Occasional (5-29%)HP:0001947
Retarded ossification
Occasional (5-29%)HP:0002750
Tremor
Occasional (5-29%)HP:0001337
Quick Facts
- SNOMED CT
- 25792000
- UMLS CUI
- C0022541
- Fully Specified Name
- Kearns-Sayre syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.